(used for variant description)
(last modified January 5, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_004304.4 in the ALK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering ALK transcript NM_004304.4.
(upstream sequence)
. . . . . g.5052
agctgcaagtggcgggcgcccaggcagatgcgatccagcggctctgggggcg c.-901
. . . . . . g.5112
gcagcggtggtagcagctggtacctcccgccgcctctgttcggagggtcgcggggcaccg c.-841
. . . . . . g.5172
aggtgctttccggccgccctctggtcggccacccaaagccgcgggcgctgatgatgggtg c.-781
. . . . . . g.5232
aggagggggcggcaagatttcgggcgcccctgccctgaacgccctcagctgctgccgccg c.-721
. . . . . . g.5292
gggccgctccagtgcctgcgaactctgaggagccgaggcgccggtgagagcaaggacgct c.-661
. . . . . . g.5352
gcaaacttgcgcagcgcgggggctgggattcacgcccagaagttcagcaggcagacagtc c.-601
. . . . . . g.5412
cgaagccttcccgcagcggagagatagcttgagggtgcgcaagacggcagcctccgccct c.-541
. . . . . . g.5472
cggttcccgcccagaccgggcagaagagcttggaggagccaaaaggaacgcaaaaggcgg c.-481
. . . . . . g.5532
ccaggacagcgtgcagcagctgggagccgccgttctcagccttaaaagttgcagagattg c.-421
. . . . . . g.5592
gaggctgccccgagaggggacagaccccagctccgactgcggggggcaggagaggacggt c.-361
. . . . . . g.5652
acccaactgccacctcccttcaaccatagtagttcctctgtaccgagcgcagcgagctac c.-301
. . . . . . g.5712
agacgggggcgcggcactcggcgcggagagcgggaggctcaaggtcccagccagtgagcc c.-241
. . . . . . g.5772
cagtgtgcttgagtgtctctggactcgcccctgagcttccaggtctgtttcatttagact c.-181
. . . . . . g.5832
cctgctcgcctccgtgcagttgggggaaagcaagagacttgcgcgcacgcacagtcctct c.-121
. . . . . . g.5892
ggagatcaggtggaaggagccgctgggtaccaaggactgttcagagcctcttcccatctc c.-61
. . . . . . g.5952
ggggagagcgaagggtgaggctgggcccggagagcagtgtaaacggcctcctccggcggg c.-1
. . . . . . g.6012
ATGGGAGCCATCGGGCTCCTGTGGCTCCTGCCGCTGCTGCTTTCCACGGCAGCTGTGGGC c.60
M G A I G L L W L L P L L L S T A A V G p.20
. . . . . . g.6072
TCCGGGATGGGGACCGGCCAGCGCGCGGGCTCCCCAGCTGCGGGGCCGCCGCTGCAGCCC c.120
S G M G T G Q R A G S P A A G P P L Q P p.40
. . . . . . g.6132
CGGGAGCCACTCAGCTACTCGCGCCTGCAGAGGAAGAGTCTGGCAGTTGACTTCGTGGTG c.180
R E P L S Y S R L Q R K S L A V D F V V p.60
. . . . . . g.6192
CCCTCGCTCTTCCGTGTCTACGCCCGGGACCTACTGCTGCCACCATCCTCCTCGGAGCTG c.240
P S L F R V Y A R D L L L P P S S S E L p.80
. . . . . . g.6252
AAGGCTGGCAGGCCCGAGGCCCGCGGCTCGCTAGCTCTGGACTGCGCCCCGCTGCTCAGG c.300
K A G R P E A R G S L A L D C A P L L R p.100
. . . . . . g.6312
TTGCTGGGGCCGGCGCCGGGGGTCTCCTGGACCGCCGGTTCACCAGCCCCGGCAGAGGCC c.360
L L G P A P G V S W T A G S P A P A E A p.120
. . . . . . g.6372
CGGACGCTGTCCAGGGTGCTGAAGGGCGGCTCCGTGCGCAAGCTCCGGCGTGCCAAGCAG c.420
R T L S R V L K G G S V R K L R R A K Q p.140
. . . . . . g.6432
TTGGTGCTGGAGCTGGGCGAGGAGGCGATCTTGGAGGGTTGCGTCGGGCCCCCCGGGGAG c.480
L V L E L G E E A I L E G C V G P P G E p.160
. . . . . . g.6492
GCGGCTGTGGGGCTGCTCCAGTTCAATCTCAGCGAGCTGTTCAGTTGGTGGATTCGCCAA c.540
A A V G L L Q F N L S E L F S W W I R Q p.180
. . . . . . g.6552
GGCGAAGGGCGACTGAGGATCCGCCTGATGCCCGAGAAGAAGGCGTCGGAAGTGGGCAGA c.600
G E G R L R I R L M P E K K A S E V G R p.200
. . . . . . g.6612
GAGGGAAGGCTGTCCGCGGCAATTCGCGCCTCCCAGCCCCGCCTTCTCTTCCAGATCTTC c.660
E G R L S A A I R A S Q P R L L F Q I F p.220
| 02. . . . . . g.208967
GGGACTG | GTCATAGCTCCTTGGAATCACCAACAAACATGCCTTCTCCTTCTCCTGATTAT c.720
G T G | H S S L E S P T N M P S P S P D Y p.240
. . . . . . g.209027
TTTACATGGAATCTCACCTGGATAATGAAAGACTCCTTCCCTTTCCTGTCTCATCGCAGC c.780
F T W N L T W I M K D S F P F L S H R S p.260
| 03. . . . . . g.231650
CGATATG | GTCTGGAGTGCAGCTTTGACTTCCCCTGTGAGCTGGAGTATTCCCCTCCACTG c.840
R Y G | L E C S F D F P C E L E Y S P P L p.280
. . . . . . g.231710
CATGACCTCAGGAACCAGAGCTGGTCCTGGCGCCGCATCCCCTCCGAGGAGGCCTCCCAG c.900
H D L R N Q S W S W R R I P S E E A S Q p.300
. . . . . | 04 . g.394503
ATGGACTTGCTGGATGGGCCTGGGGCAGAGCGTTCTAAGGAGATGCCCAGAG | GCTCCTTT c.960
M D L L D G P G A E R S K E M P R G | S F p.320
. . . . . . g.394563
CTCCTTCTCAACACCTCAGCTGACTCCAAGCACACCATCCTGAGTCCGTGGATGAGGAGC c.1020
L L L N T S A D S K H T I L S P W M R S p.340
. . . . . . g.394623
AGCAGTGAGCACTGCACACTGGCCGTCTCGGTGCACAGGCACCTGCAGCCCTCTGGAAGG c.1080
S S E H C T L A V S V H R H L Q P S G R p.360
. . . . . . g.394683
TACATTGCCCAGCTGCTGCCCCACAACGAGGCTGCAAGAGAGATCCTCCTGATGCCCACT c.1140
Y I A Q L L P H N E A A R E I L L M P T p.380
. | 05 . . . . . g.542798
CCAGGGAAGCATGG | TTGGACAGTGCTCCAGGGAAGAATCGGGCGTCCAGACAACCCATTT c.1200
P G K H G | W T V L Q G R I G R P D N P F p.400
. . . . . . g.542858
CGAGTGGCCCTGGAATACATCTCCAGTGGAAACCGCAGCTTGTCTGCAGTGGACTTCTTT c.1260
R V A L E Y I S S G N R S L S A V D F F p.420
. . | 06 . . . . g.598168
GCCCTGAAGAACTGCAGTGAAG | GAACATCCCCAGGCTCCAAGATGGCCCTGCAGAGCTCC c.1320
A L K N C S E G | T S P G S K M A L Q S S p.440
. . . . . . g.598228
TTCACTTGTTGGAATGGGACAGTCCTCCAGCTTGGGCAGGCCTGTGACTTCCACCAGGAC c.1380
F T C W N G T V L Q L G Q A C D F H Q D p.460
. . . | 07 . . . g.605755
TGTGCCCAGGGAGAAGATGAGAGCCAGATGTGCC | GGAAACTGCCTGTGGGTTTTTACTGC c.1440
C A Q G E D E S Q M C R | K L P V G F Y C p.480
. . . . . . g.605815
AACTTTGAAGATGGCTTCTGTGGCTGGACCCAAGGCACACTGTCACCCCACACTCCTCAA c.1500
N F E D G F C G W T Q G T L S P H T P Q p.500
. . . . | 08 . . g.608221
TGGCAGGTCAGGACCCTAAAGGATGCCCGGTTCCAGGACCACCAAG | ACCATGCTCTATTG c.1560
W Q V R T L K D A R F Q D H Q D | H A L L p.520
. . . . . . g.608281
CTCAGTACCACTGATGTCCCCGCTTCTGAAAGTGCTACAGTGACCAGTGCTACGTTTCCT c.1620
L S T T D V P A S E S A T V T S A T F P p.540
. . | 09. . . . g.629587
GCACCGATCAAGAGCTCTCCATGTGAG | CTCCGAATGTCCTGGCTCATTCGTGGAGTCTTG c.1680
A P I K S S P C E | L R M S W L I R G V L p.560
. . . . . . g.629647
AGGGGAAACGTGTCCTTGGTGCTAGTGGAGAACAAAACCGGGAAGGAGCAAGGCAGGATG c.1740
R G N V S L V L V E N K T G K E Q G R M p.580
. . . . . . g.629707
GTCTGGCATGTCGCCGCCTATGAAGGCTTGAGCCTGTGGCAGTGGATGGTGTTGCCTCTC c.1800
V W H V A A Y E G L S L W Q W M V L P L p.600
. | 10. . . . . g.651158
CTCGATGTGTCTGACAG | GTTCTGGCTGCAGATGGTCGCATGGTGGGGACAAGGATCCAGA c.1860
L D V S D R | F W L Q M V A W W G Q G S R p.620
. . . . . | 11 . g.651392
GCCATCGTGGCTTTTGACAATATCTCCATCAGCCTGGACTGCTACCTCACCA | TTAGCGGA c.1920
A I V A F D N I S I S L D C Y L T I | S G p.640
. . . . . . g.651452
GAGGACAAGATCCTGCAGAATACAGCACCCAAATCAAGAAACCTGTTTGAGAGAAACCCA c.1980
E D K I L Q N T A P K S R N L F E R N P p.660
. . . . . . g.651512
AACAAGGAGCTGAAACCCGGGGAAAATTCACCAAGACAGACCCCCATCTTTGACCCTACA c.2040
N K E L K P G E N S P R Q T P I F D P T p.680
| 12 . . . . . . g.675403
G | TTCATTGGCTGTTCACCACATGTGGGGCCAGCGGGCCCCATGGCCCCACCCAGGCACAG c.2100
V | H W L F T T C G A S G P H G P T Q A Q p.700
. . . . . . g.675463
TGCAACAACGCCTACCAGAACTCCAACCTGAGCGTGGAGGTGGGGAGCGAGGGCCCCCTG c.2160
C N N A Y Q N S N L S V E V G S E G P L p.720
. . . . | 13 . . g.686797
AAAGGCATCCAGATCTGGAAGGTGCCAGCCACCGACACCTACAG | CATCTCGGGCTACGGA c.2220
K G I Q I W K V P A T D T Y S | I S G Y G p.740
. . . . . . g.686857
GCTGCTGGCGGGAAAGGCGGGAAGAACACCATGATGCGGTCCCACGGCGTGTCTGTGCTG c.2280
A A G G K G G K N T M M R S H G V S V L p.760
. . . . . . g.686917
GGCATCTTCAACCTGGAGAAGGATGACATGCTGTACATCCTGGTTGGGCAGCAGGGAGAG c.2340
G I F N L E K D D M L Y I L V G Q Q G E p.780
. | 14 . . . . . g.692960
GACGCCTGCCCCAGT | ACAAACCAGTTAATCCAGAAAGTCTGCATTGGAGAGAACAATGTG c.2400
D A C P S | T N Q L I Q K V C I G E N N V p.800
. . . . . . g.693020
ATAGAAGAAGAAATCCGTGTGAACAGAAGCGTGCATGAGTGGGCAGGAGGCGGAGGAGGA c.2460
I E E E I R V N R S V H E W A G G G G G p.820
. . | 15. . . . g.694196
GGGGGTGGAGCCACCTACGTATTTAAG | ATGAAGGATGGAGTGCCGGTGCCCCTGATCATT c.2520
G G G A T Y V F K | M K D G V P V P L I I p.840
. . . . . . g.694256
GCAGCCGGAGGTGGTGGCAGGGCCTACGGGGCCAAGACAGACACGTTCCACCCAGAGAGA c.2580
A A G G G G R A Y G A K T D T F H P E R p.860
. . . . . | 16 . g.697553
CTGGAGAATAACTCCTCGGTTCTAGGGCTAAACGGCAATTCCGGAGCCGCAG | GTGGTGGA c.2640
L E N N S S V L G L N G N S G A A G | G G p.880
. . . . . . g.697613
GGTGGCTGGAATGATAACACTTCCTTGCTCTGGGCCGGAAAATCTTTGCAGGAGGGTGCC c.2700
G G W N D N T S L L W A G K S L Q E G A p.900
. . . . . . g.697673
ACCGGAGGACATTCCTGCCCCCAGGCCATGAAGAAGTGGGGGTGGGAGACAAGAGGGGGT c.2760
T G G H S C P Q A M K K W G W E T R G G p.920
. . . . . | 17 . g.698944
TTCGGAGGGGGTGGAGGGGGGTGCTCCTCAGGTGGAGGAGGCGGAGGATATATAG | GCGGC c.2820
F G G G G G G C S S G G G G G G Y I G | G p.940
. . . . . . g.699004
AATGCAGCCTCAAACAATGACCCCGAAATGGATGGGGAAGATGGGGTTTCCTTCATCAGT c.2880
N A A S N N D P E M D G E D G V S F I S p.960
. . . | 18 . . . g.699563
CCACTGGGCATCCTGTACACCCCAGCTTTAAAAG | TGATGGAAGGCCACGGGGAAGTGAAT c.2940
P L G I L Y T P A L K V | M E G H G E V N p.980
. . . . . . g.699623
ATTAAGCATTATCTAAACTGCAGTCACTGTGAGGTAGACGAATGTCACATGGACCCTGAA c.3000
I K H Y L N C S H C E V D E C H M D P E p.1000
. . . . . . g.699683
AGCCACAAGGTCATCTGCTTCTGTGACCACGGGACGGTGCTGGCTGAGGATGGCGTCTCC c.3060
S H K V I C F C D H G T V L A E D G V S p.1020
| 19. . . . . . g.701099
TGCATTG | TGTCACCCACCCCGGAGCCACACCTGCCACTCTCGCTGATCCTCTCTGTGGTG c.3120
C I V | S P T P E P H L P L S L I L S V V p.1040
. . . . . | 20 . g.703091
ACCTCTGCCCTCGTGGCCGCCCTGGTCCTGGCTTTCTCCGGCATCATGATTG | TGTACCGC c.3180
T S A L V A A L V L A F S G I M I V | Y R p.1060
. . . . . . g.703151
CGGAAGCACCAGGAGCTGCAAGCCATGCAGATGGAGCTGCAGAGCCCTGAGTACAAGCTG c.3240
R K H Q E L Q A M Q M E L Q S P E Y K L p.1080
. . . . . . g.703211
AGCAAGCTCCGCACCTCGACCATCATGACCGACTACAACCCCAACTACTGCTTTGCTGGC c.3300
S K L R T S T I M T D Y N P N Y C F A G p.1100
. . . . . | 21 g.704005
AAGACCTCCTCCATCAGTGACCTGAAGGAGGTGCCGCGGAAAAACATCACCCTCATTCG | G c.3360
K T S S I S D L K E V P R K N I T L I R | p.1120
. . . . . . g.704065
GGTCTGGGCCATGGCGCCTTTGGGGAGGTGTATGAAGGCCAGGTGTCCGGAATGCCCAAC c.3420
G L G H G A F G E V Y E G Q V S G M P N p.1140
. . . | 22 . . . g.704233
GACCCAAGCCCCCTGCAAGTGGCTGTGAAG | ACGCTGCCTGAAGTGTGCTCTGAACAGGAC c.3480
D P S P L Q V A V K | T L P E V C S E Q D p.1160
. . . | 23 . . . g.705801
GAACTGGATTTCCTCATGGAAGCCCTGATCATCAG | CAAATTCAACCACCAGAACATTGTT c.3540
E L D F L M E A L I I S | K F N H Q N I V p.1180
. . . . . . g.705861
CGCTGCATTGGGGTGAGCCTGCAATCCCTGCCCCGGTTCATCCTGCTGGAGCTCATGGCG c.3600
R C I G V S L Q S L P R F I L L E L M A p.1200
. . . . | 24 . . g.712545
GGGGGAGACCTCAAGTCCTTCCTCCGAGAGACCCGCCCTCGCCCG | AGCCAGCCCTCCTCC c.3660
G G D L K S F L R E T R P R P | S Q P S S p.1220
. . . . . . g.712605
CTGGCCATGCTGGACCTTCTGCACGTGGCTCGGGACATTGCCTGTGGCTGTCAGTATTTG c.3720
L A M L D L L H V A R D I A C G C Q Y L p.1240
. . | 25 . . . . g.716770
GAGGAAAACCACTTCATCCACCG | AGACATTGCTGCCAGAAACTGCCTCTTGACCTGTCCA c.3780
E E N H F I H R | D I A A R N C L L T C P p.1260
. . . . . | 26 . g.719343
GGCCCTGGAAGAGTGGCCAAGATTGGAGACTTCGGGATGGCCCGAGACATCTACAG | GGCG c.3840
G P G R V A K I G D F G M A R D I Y R | A p.1280
. . . . . . g.719403
AGCTACTATAGAAAGGGAGGCTGTGCCATGCTGCCAGTTAAGTGGATGCCCCCAGAGGCC c.3900
S Y Y R K G G C A M L P V K W M P P E A p.1300
. . . | 27 . . g.728957
TTCATGGAAGGAATATTCACTTCTAAAACAGACACATG | GTCCTTTGGAGTGCTGCTATGG c.3960
F M E G I F T S K T D T W | S F G V L L W p.1320
. . . . . . g.729017
GAAATCTTTTCTCTTGGATATATGCCATACCCCAGCAAAAGCAACCAGGAAGTTCTGGAG c.4020
E I F S L G Y M P Y P S K S N Q E V L E p.1340
. . . . . | 28 . g.729758
TTTGTCACCAGTGGAGGCCGGATGGACCCACCCAAGAACTGCCCTGGGCCTGT | ATACCGG c.4080
F V T S G G R M D P P K N C P G P V | Y R p.1360
. . . . . . g.729818
ATAATGACTCAGTGCTGGCAACATCAGCCTGAAGACAGGCCCAACTTTGCCATCATTTTG c.4140
I M T Q C W Q H Q P E D R P N F A I I L p.1380
. . | 29 . . . . g.732725
GAGAGGATTGAATACTGCACCCAG | GACCCGGATGTAATCAACACCGCTTTGCCGATAGAA c.4200
E R I E Y C T Q | D P D V I N T A L P I E p.1400
. . . . . . g.732785
TATGGTCCACTTGTGGAAGAGGAAGAGAAAGTGCCTGTGAGGCCCAAGGACCCTGAGGGG c.4260
Y G P L V E E E E K V P V R P K D P E G p.1420
. . . . . . g.732845
GTTCCTCCTCTCCTGGTCTCTCAACAGGCAAAACGGGAGGAGGAGCGCAGCCCAGCTGCC c.4320
V P P L L V S Q Q A K R E E E R S P A A p.1440
. . . . . . g.732905
CCACCACCTCTGCCTACCACCTCCTCTGGCAAGGCTGCAAAGAAACCCACAGCTGCAGAG c.4380
P P P L P T T S S G K A A K K P T A A E p.1460
. . . . . . g.732965
ATCTCTGTTCGAGTCCCTAGAGGGCCGGCCGTGGAAGGGGGACACGTGAATATGGCATTC c.4440
I S V R V P R G P A V E G G H V N M A F p.1480
. . . . . . g.733025
TCTCAGTCCAACCCTCCTTCGGAGTTGCACAAGGTCCACGGATCCAGAAACAAGCCCACC c.4500
S Q S N P P S E L H K V H G S R N K P T p.1500
. . . . . . g.733085
AGCTTGTGGAACCCAACGTACGGCTCCTGGTTTACAGAGAAACCCACCAAAAAGAATAAT c.4560
S L W N P T Y G S W F T E K P T K K N N p.1520
. . . . . . g.733145
CCTATAGCAAAGAAGGAGCCACACGACAGGGGTAACCTGGGGCTGGAGGGAAGCTGTACT c.4620
P I A K K E P H D R G N L G L E G S C T p.1540
. . . . . . g.733205
GTCCCACCTAACGTTGCAACTGGGAGACTTCCGGGGGCCTCACTGCTCCTAGAGCCCTCT c.4680
V P P N V A T G R L P G A S L L L E P S p.1560
. . . . . . g.733265
TCGCTGACTGCCAATATGAAGGAGGTACCTCTGTTCAGGCTACGTCACTTCCCTTGTGGG c.4740
S L T A N M K E V P L F R L R H F P C G p.1580
. . . . . . g.733325
AATGTCAATTACGGCTACCAGCAACAGGGCTTGCCCTTAGAAGCCGCTACTGCCCCTGGA c.4800
N V N Y G Y Q Q Q G L P L E A A T A P G p.1600
. . . . . . g.733385
GCTGGTCATTACGAGGATACCATTCTGAAAAGCAAGAATAGCATGAACCAGCCTGGGCCC c.4860
A G H Y E D T I L K S K N S M N Q P G P p.1620
g.733388
TGA c.4863
X p.1620
. . . . . . g.733448
gctcggtcgcacactcacttctcttccttgggatccctaagaccgtggaggagagagagg c.*60
. . . . . . g.733508
caatggctccttcacaaaccagagaccaaatgtcacgttttgttttgtgccaacctattt c.*120
. . . . . . g.733568
tgaagtaccaccaaaaaagctgtattttgaaaatgctttagaaaggttttgagcatgggt c.*180
. . . . . . g.733628
tcatcctattctttcgaaagaagaaaatatcataaaaatgagtgataaatacaaggccca c.*240
. . . . . . g.733688
gatgtggttgcataaggtttttatgcatgtttgttgtatacttccttatgcttctttcaa c.*300
. . . . . . g.733748
attgtgtgtgctctgcttcaatgtagtcagaattagctgcttctatgtttcatagttggg c.*360
. . . . . . g.733808
gtcatagatgtttccttgccttgttgatgtggacatgagccatttgaggggagagggaac c.*420
. . . g.733838
ggaaataaaggagttatttgtaatgactaa c.*450
(downstream sequence)
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