(used for variant description)
(last modified December 27, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000222.2 in the KIT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007456.1, covering KIT transcript NM_000222.2.
(upstream sequence)
. . g.5027
tctgggggctcggctttgccgcgctcg c.-61
. . . . . . g.5087
ctgcacttgggcgagagctggaacgtggaccagagctcggatcccatcgcagctaccgcg c.-1
. . . . . . g.5147
ATGAGAGGCGCTCGCGGCGCCTGGGATTTTCTCTGCGTTCTGCTCCTACTGCTTCGCGTC c.60
M R G A R G A W D F L C V L L L L L R V p.20
| 02. . . . . . g.42636
CAGACAG | GCTCTTCTCAACCATCTGTGAGTCCAGGGGAACCGTCTCCACCATCCATCCAT c.120
Q T G | S S Q P S V S P G E P S P P S I H p.40
. . . . . . g.42696
CCAGGAAAATCAGACTTAATAGTCCGCGTGGGCGACGAGATTAGGCTGTTATGCACTGAT c.180
P G K S D L I V R V G D E I R L L C T D p.60
. . . . . . g.42756
CCGGGCTTTGTCAAATGGACTTTTGAGATCCTGGATGAAACGAATGAGAATAAGCAGAAT c.240
P G F V K W T F E I L D E T N E N K Q N p.80
. . . . . . g.42816
GAATGGATCACGGAAAAGGCAGAAGCCACCAACACCGGCAAATACACGTGCACCAACAAA c.300
E W I T E K A E A T N T G K Y T C T N K p.100
. . . | 03. . . g.45378
CACGGCTTAAGCAATTCCATTTATGTGTTTGTTAGAG | ATCCTGCCAAGCTTTTCCTTGTT c.360
H G L S N S I Y V F V R D | P A K L F L V p.120
. . . . . . g.45438
GACCGCTCCTTGTATGGGAAAGAAGACAACGACACGCTGGTCCGCTGTCCTCTCACAGAC c.420
D R S L Y G K E D N D T L V R C P L T D p.140
. . . . . . g.45498
CCAGAAGTGACCAATTATTCCCTCAAGGGGTGCCAGGGGAAGCCTCTTCCCAAGGACTTG c.480
P E V T N Y S L K G C Q G K P L P K D L p.160
. . . . . . g.45558
AGGTTTATTCCTGACCCCAAGGCGGGCATCATGATCAAAAGTGTGAAACGCGCCTACCAT c.540
R F I P D P K A G I M I K S V K R A Y H p.180
. . . . . . g.45618
CGGCTCTGTCTGCATTGTTCTGTGGACCAGGAGGGCAAGTCAGTGCTGTCGGAAAAATTC c.600
R L C L H C S V D Q E G K S V L S E K F p.200
. | 04 . . . . g.46742
ATCCTGAAAGTGAGGCCAG | CCTTCAAAGCTGTGCCTGTTGTGTCTGTGTCCAAAGCAAGC c.660
I L K V R P A | F K A V P V V S V S K A S p.220
. . . . . . g.46802
TATCTTCTTAGGGAAGGGGAAGAATTCACAGTGACGTGCACAATAAAAGATGTGTCTAGT c.720
Y L L R E G E E F T V T C T I K D V S S p.240
. . . | 05 . . . g.50819
TCTGTGTACTCAACGTGGAAAAGAGAAAACAGTCAG | ACTAAACTACAGGAGAAATATAAT c.780
S V Y S T W K R E N S Q | T K L Q E K Y N p.260
. . . . . . g.50879
AGCTGGCATCACGGTGACTTCAATTATGAACGTCAGGCAACGTTGACTATCAGTTCAGCG c.840
S W H H G D F N Y E R Q A T L T I S S A p.280
. . . . . . g.50939
AGAGTTAATGATTCTGGAGTGTTCATGTGTTATGCCAATAATACTTTTGGATCAGCAAAT c.900
R V N D S G V F M C Y A N N T F G S A N p.300
. . | 06 . . . . g.54204
GTCACAACAACCTTGGAAGTAGTAG | ATAAAGGATTCATTAATATCTTCCCCATGATAAAC c.960
V T T T L E V V D | K G F I N I F P M I N p.320
. . . . . . g.54264
ACTACAGTATTTGTAAACGATGGAGAAAATGTAGATTTGATTGTTGAATATGAAGCATTC c.1020
T T V F V N D G E N V D L I V E Y E A F p.340
. . . . . . g.54324
CCCAAACCTGAACACCAGCAGTGGATCTATATGAACAGAACCTTCACTGATAAATGGGAA c.1080
P K P E H Q Q W I Y M N R T F T D K W E p.360
. . . | 07 . . . g.56520
GATTATCCCAAGTCTGAGAATGAAAGTAATATCAG | ATACGTAAGTGAACTTCATCTAACG c.1140
D Y P K S E N E S N I R | Y V S E L H L T p.380
. . . . . . g.56580
AGATTAAAAGGCACCGAAGGAGGCACTTACACATTCCTAGTGTCCAATTCTGACGTCAAT c.1200
R L K G T E G G T Y T F L V S N S D V N p.400
. . . | 08 . . . g.70684
GCTGCCATAGCATTTAATGTTTATGTGAATA | CAAAACCAGAAATCCTGACTTACGACAGG c.1260
A A I A F N V Y V N T | K P E I L T Y D R p.420
. . . . . . g.70744
CTCGTGAATGGCATGCTCCAATGTGTGGCAGCAGGATTCCCAGAGCCCACAATAGATTGG c.1320
L V N G M L Q C V A A G F P E P T I D W p.440
. . | 09 . . . . g.72962
TATTTTTGTCCAGGAACTGAGCAGAG | ATGCTCTGCTTCTGTACTGCCAGTGGATGTGCAG c.1380
Y F C P G T E Q R | C S A S V L P V D V Q p.460
. . . . . . g.73022
ACACTAAACTCATCTGGGCCACCGTTTGGAAAGCTAGTGGTTCAGAGTTCTATAGATTCT c.1440
T L N S S G P P F G K L V V Q S S I D S p.480
. . . . . . g.73082
AGTGCATTCAAGCACAATGGCACGGTTGAATGTAAGGCTTACAACGATGTGGGCAAGACT c.1500
S A F K H N G T V E C K A Y N D V G K T p.500
. . . . | 10 . . g.74309
TCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAG | AGCAAATCCATCCCCACACC c.1560
S A Y F N F A F K G N N K E | Q I H P H T p.520
. . . . . . g.74369
CTGTTCACTCCTTTGCTGATTGGTTTCGTAATCGTAGCTGGCATGATGTGCATTATTGTG c.1620
L F T P L L I G F V I V A G M M C I I V p.540
. . | 11. . . . g.74520
ATGATTCTGACCTACAAATATTTACAG | AAACCCATGTATGAAGTACAGTGGAAGGTTGTT c.1680
M I L T Y K Y L Q | K P M Y E V Q W K V V p.560
. . . . . . g.74580
GAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTATGATCAC c.1740
E E I N G N N Y V Y I D P T Q L P Y D H p.580
. . . | 12 . . . g.74920
AAATGGGAGTTTCCCAGAAACAGGCTGAGTTTTG | GGAAAACCCTGGGTGCTGGAGCTTTC c.1800
K W E F P R N R L S F G | K T L G A G A F p.600
. . . . . . g.74980
GGGAAGGTTGTTGAGGCAACTGCTTATGGCTTAATTAAGTCAGATGCGGCCATGACTGTC c.1860
G K V V E A T A Y G L I K S D A A M T V p.620
. | 13 . . . . g.75123
GCTGTAAAGATGCTCAAGC | CGAGTGCCCATTTGACAGAACGGGAAGCCCTCATGTCTGAA c.1920
A V K M L K P | S A H L T E R E A L M S E p.640
. . . . . . g.75183
CTCAAAGTCCTGAGTTACCTTGGTAATCACATGAATATTGTGAATCTACTTGGAGCCTGC c.1980
L K V L S Y L G N H M N I V N L L G A C p.660
. | 14 . . . . . g.76456
ACCATTGGAG | GGCCCACCCTGGTCATTACAGAATATTGTTGCTATGGTGATCTTTTGAAT c.2040
T I G G | P T L V I T E Y C C Y G D L L N p.680
. . . . . . g.76516
TTTTTGAGAAGAAAACGTGATTCATTTATTTGTTCAAAGCAGGAAGATCATGCAGAAGCT c.2100
F L R R K R D S F I C S K Q E D H A E A p.700
. . . . | 15 . . g.78418
GCACTTTATAAGAATCTTCTGCATTCAAAGGAGTCTTCCTG | CAGCGATAGTACTAATGAG c.2160
A L Y K N L L H S K E S S C | S D S T N E p.720
. . . . . . g.78478
TACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGA c.2220
Y M D M K P G V S Y V V P T K A D K R R p.740
. | 16 . . . . . g.78989
TCTGTGAGAATAG | GCTCATACATAGAAAGAGATGTGACTCCCGCCATCATGGAGGATGAC c.2280
S V R I G | S Y I E R D V T P A I M E D D p.760
. . . . . . g.79049
GAGTTGGCCCTAGACTTAGAAGACTTGCTGAGCTTTTCTTACCAGGTGGCAAAGGGCATG c.2340
E L A L D L E D L L S F S Y Q V A K G M p.780
. . | 17 . . . . g.80180
GCTTTCCTCGCCTCCAAGAAT | TGTATTCACAGAGACTTGGCAGCCAGAAATATCCTCCTT c.2400
A F L A S K N | C I H R D L A A R N I L L p.800
. . . . . . g.80240
ACTCATGGTCGGATCACAAAGATTTGTGATTTTGGTCTAGCCAGAGACATCAAGAATGAT c.2460
T H G R I T K I C D F G L A R D I K N D p.820
. . | 18 . . . . g.83605
TCTAATTATGTGGTTAAAGGAAAC | GCTCGACTACCTGTGAAGTGGATGGCACCTGAAAGC c.2520
S N Y V V K G N | A R L P V K W M A P E S p.840
. . . . . . g.83665
ATTTTCAACTGTGTATACACGTTTGAAAGTGACGTCTGGTCCTATGGGATTTTTCTTTGG c.2580
I F N C V Y T F E S D V W S Y G I F L W p.860
. | 19 . . . . . g.83836
GAGCTGTTCTCTTTAG | GAAGCAGCCCCTATCCTGGAATGCCGGTCGATTCTAAGTTCTAC c.2640
E L F S L G | S S P Y P G M P V D S K F Y p.880
. . . . . | 20 . g.84250
AAGATGATCAAGGAAGGCTTCCGGATGCTCAGCCCTGAACACGCACCTGCTGAAAT | GTAT c.2700
K M I K E G F R M L S P E H A P A E M | Y p.900
. . . . . . g.84310
GACATAATGAAGACTTGCTGGGATGCAGATCCCCTAAAAAGACCAACATTCAAGCAAATT c.2760
D I M K T C W D A D P L K R P T F K Q I p.920
. . . . | 21 . . g.85518
GTTCAGCTAATTGAGAAGCAGATTTCAGAGAGCACCAATCAT | ATTTACTCCAACTTAGCA c.2820
V Q L I E K Q I S E S T N H | I Y S N L A p.940
. . . . . . g.85578
AACTGCAGCCCCAACCGACAGAAGCCCGTGGTAGACCATTCTGTGCGGATCAATTCTGTC c.2880
N C S P N R Q K P V V D H S V R I N S V p.960
. . . . . g.85629
GGCAGCACCGCTTCCTCCTCCCAGCCTCTGCTTGTGCACGACGATGTCTGA c.2931
G S T A S S S Q P L L V H D D V X p.976
. . . . . . g.85689
gcagaatcagtgtttgggtcacccctccaggaatgatctcttcttttggcttccatgatg c.*60
. . . . . . g.85749
gttattttcttttctttcaacttgcatccaactccaggatagtgggcaccccactgcaat c.*120
. . . . . . g.85809
cctgtctttctgagcacactttagtggccgatgatttttgtcatcagccaccatcctatt c.*180
. . . . . . g.85869
gcaaaggttccaactgtatatattcccaatagcaacgtagcttctaccatgaacagaaaa c.*240
. . . . . . g.85929
cattctgatttggaaaaagagagggaggtatggactgggggccagagtcctttccaaggc c.*300
. . . . . . g.85989
ttctccaattctgcccaaaaatatggttgatagtttacctgaataaatggtagtaatcac c.*360
. . . . . . g.86049
agttggccttcagaaccatccatagtagtatgatgatacaagattagaagctgaaaacct c.*420
. . . . . . g.86109
aagtcctttatgtggaaaacagaacatcattagaacaaaggacagagtatgaacacctgg c.*480
. . . . . . g.86169
gcttaagaaatctagtatttcatgctgggaatgagacataggccatgaaaaaaatgatcc c.*540
. . . . . . g.86229
ccaagtgtgaacaaaagatgctcttctgtggaccactgcatgagcttttatactaccgac c.*600
. . . . . . g.86289
ctggtttttaaatagagtttgctattagagcattgaattggagagaaggcctccctagcc c.*660
. . . . . . g.86349
agcacttgtatatacgcatctataaattgtccgtgttcatacatttgaggggaaaacacc c.*720
. . . . . . g.86409
ataaggtttcgtttctgtatacaaccctggcattatgtccactgtgtatagaagtagatt c.*780
. . . . . . g.86469
aagagccatataagtttgaaggaaacagttaataccattttttaaggaaacaatataacc c.*840
. . . . . . g.86529
acaaagcacagtttgaacaaaatctcctcttttagctgatgaacttattctgtagattct c.*900
. . . . . . g.86589
gtggaacaagcctatcagcttcagaatggcattgtactcaatggatttgatgctgtttga c.*960
. . . . . . g.86649
caaagttactgattcactgcatggctcccacaggagtgggaaaacactgccatcttagtt c.*1020
. . . . . . g.86709
tggattcttatgtagcaggaaataaagtataggtttagcctccttcgcaggcatgtcctg c.*1080
. . . . . . g.86769
gacaccgggccagtatctatatatgtgtatgtacgtttgtatgtgtgtagacaaatattt c.*1140
. . . . . . g.86829
ggaggggtatttttgccctgagtccaagagggtcctttagtacctgaaaagtaacttggc c.*1200
. . . . . . g.86889
tttcattattagtactgctcttgtttcttttcacatagctgtctagagtagcttaccaga c.*1260
. . . . . . g.86949
agcttccatagtggtgcagaggaagtggaaggcatcagtccctatgtatttgcagttcac c.*1320
. . . . . . g.87009
ctgcacttaaggcactctgttatttagactcatcttactgtacctgttccttagaccttc c.*1380
. . . . . . g.87069
cataatgctactgtctcactgaaacatttaaattttaccctttagactgtagcctggata c.*1440
. . . . . . g.87129
ttattcttgtagtttacctctttaaaaacaaaacaaaacaaaacaaaaaactccccttcc c.*1500
. . . . . . g.87189
tcactgcccaatataaaaggcaaatgtgtacatggcagagtttgtgtgttgtcttgaaag c.*1560
. . . . . . g.87249
attcaggtatgttgcctttatggtttcccccttctacatttcttagactacatttagaga c.*1620
. . . . . . g.87309
actgtggccgttatctggaagtaaccatttgcactggagttctatgctctcgcacctttc c.*1680
. . . . . . g.87369
caaagttaacagattttggggttgtgttgtcacccaagagattgttgtttgccatacttt c.*1740
. . . . . . g.87429
gtctgaaaaattcctttgtgtttctattgacttcaatgatagtaagaaaagtggttgtta c.*1800
. . . . . . g.87489
gttatagatgtctaggtacttcaggggcacttcattgagagttttgtcttggatattctt c.*1860
. . . . . . g.87549
gaaagtttatatttttataattttttcttacatcagatgtttctttgcagtggcttaatg c.*1920
. . . . . . g.87609
tttgaaattattttgtggctttttttgtaaatattgaaatgtagcaataatgtcttttga c.*1980
. . . . . . g.87669
atattcccaagcccatgagtccttgaaaatattttttatatatacagtaactttatgtgt c.*2040
. . . . . . g.87729
aaatacataagcggcgtaagtttaaaggatgttggtgttccacgtgttttattcctgtat c.*2100
. . . . . g.87787
gttgtccaattgttgacagttctgaagaattctaataaaatgtacatatataaatcaa c.*2158
(downstream sequence)
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