(used for variant description)
(last modified November 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_019032.4 in the ADAMTSL4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012172.1, covering ADAMTSL4 transcript NM_019032.4.
(upstream sequence)
. . . . . g.5056
ccgccgcggagcgaggttgcctggagagagcgcctgggcgcagaagggttaacggg c.-181
. . . | 02 . . . g.5438
ccaccgggggctcgcagagcag | gagggtgctctcggacggtgtgtcccccactgcactcc c.-121
. . . . | 03 . . g.7807
tgaacttggaggacagggtcgccgcgagggacgcag | agagcaccctccacgcccagatgc c.-61
. . . . . . g.7867
ctgcgtagtttttgtgaccagtccgctcctgcctccccctggggcagtagagggggagcg c.-1
. . | 04 . . . . g.8161
ATGGAGAACTGGACTGGCAG | GCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAG c.60
M E N W T G R | P W L Y L L L L L S L P Q p.20
. | 05 . . . . g.8518
CTCTGCTTGGATCAGGAG | GTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGC c.120
L C L D Q E | V L S G H S L Q T P T E E G p.40
. . . . . . g.8578
CAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGC c.180
Q G P E G V W G P W V Q W A S C S Q P C p.60
. . . . . . g.8638
GGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCG c.240
G V G V Q R R S R T C Q L P T V Q L H P p.80
. . . . . . g.8698
AGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAG c.300
S L P L P P R P P R H P E A L L P R G Q p.100
. . . . . . g.8758
GGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGA c.360
G P R P Q T S P E T L P L Y R T Q S R G p.120
. . . . . . g.8818
AGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATT c.420
R G G P L R G P A S H L G R E E T Q E I p.140
. | 06 . . . . . g.9050
CGAGCGGCCAGGAG | GTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGG c.480
R A A R R | S R L R D P I K P G M F G Y G p.160
. . . . . . g.9110
AGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGA c.540
R V P F A L P L H R N R R H P R S P P R p.180
. . . . . . g.9170
TCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGA c.600
S E L S L I S S R G E E A I P S P T P R p.200
. . . . . . g.9230
GCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCT c.660
A E P F S A N G S P Q T E L P P T E L S p.220
. . . . . . g.9290
GTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTG c.720
V H T P S P Q A E P L S P E T A Q T E V p.240
. . . . . . g.9350
GCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACA c.780
A P R T R P A P L R H H P R A Q A S G T p.260
. . . . . . g.9410
GAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAG c.840
E P P S P T H S L G E G G F F R A S P Q p.280
. . . . . . g.9470
CCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGAT c.900
P R R P S S Q G W A S P Q V A G R R P D p.300
. . . . . . g.9530
CCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGG c.960
P F P S V P R G R G Q Q G Q G P W G T G p.320
. . . . . . g.9590
GGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCC c.1020
G T P H G P R L E P D P Q H P G A W L P p.340
. . . . . . g.9650
CTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCT c.1080
L L S N G P H A S S L W S L F A P S S P p.360
. . . . . | 07 . g.9952
ATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCG | CCCTGCCCC c.1140
I P R C S G E S E Q L R A C S Q A | P C P p.380
. . . . . . g.10012
CCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATG c.1200
P E Q P D P R A L Q C A A F N S Q E F M p.400
. . . | 08 . . . g.11033
GGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAG | TCCAGGGCTCCCAGCGCTGTGAACTG c.1260
G Q L Y Q W E P F T E V | Q G S Q R C E L p.420
. . . . . . g.11093
AACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGG c.1320
N C R P R G F R F Y V R H T E K V Q D G p.440
. . . . . | 09 . g.11749
ACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTG | AGCCCCGGC c.1380
T L C Q P G A P D I C V A G R C L | S P G p.460
. . . . . . g.11809
TGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGAT c.1440
C D G I L G S G R R P D G C G V C G G D p.480
. . . . . . g.11869
GATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTAT c.1500
D S T C R L V S G N L T D R G G P L G Y p.500
. . . . . . g.11929
CAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCT c.1560
Q K I L W I P A G A L R L Q I A Q L R P p.520
. | 10 . . . . . g.12243
AGCTCCAACTACCTGG | CACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGG c.1620
S S N Y L A | L R G P G G R S I I N G N W p.540
. . . . . . g.12303
GCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCT c.1680
A V D P P G S Y R A G G T V F R Y N R P p.560
. . . . . . g.12363
CCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTG c.1740
P R E E G K G E S L S A E G P T T Q P V p.580
| 11 . . . . . g.12568
GATGTCTAT | ATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCT c.1800
D V Y | M I F Q E E N P G V F Y Q Y V I S p.600
. . . . . . g.12628
TCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCG c.1860
S P P P I L E N P T P E P P V P Q L Q P p.620
| 12 . . . . . . g.12787
G | AGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGC c.1920
E | I L R V E P P L A P A P R P A R T P G p.640
. . . . . . g.12847
ACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCC c.1980
T L Q R Q V R I P Q M P A P P H P R T P p.660
. . . . . . g.12907
CTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGC c.2040
L G S P A A Y W K R V G H S A C S A S C p.680
| 13. . . . . . g.13125
GGGAAAG | GTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTG c.2100
G K G | V W R P I F L C I S R E S G E E L p.700
. . . . . . g.13185
GATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGC c.2160
D E R S C A A G A R P P A S P E P C H G p.720
. | 14. . . . . g.13566
ACCCCATGCCCCCCATA | CTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGC c.2220
T P C P P Y | W E A G E W T S C S R S C G p.740
. . . . . . g.13626
CCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCG c.2280
P G T Q H R Q L Q C R Q E F G G G G S S p.760
. . . . . . g.13686
GTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTG c.2340
V P P E R C G H L P R P N I T Q S C Q L p.780
. . . . | 15 . . g.14069
CGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAG | TGCTCCGTGCGGTGCGGC c.2400
R L C G H W E V G S P W S Q | C S V R C G p.800
. . . . . . g.14129
CGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAG c.2460
R G Q R S R Q V R C V G N N G D E V S E p.820
. . . . . . g.14189
CAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCC c.2520
Q E C A S G P P Q P P S R E A C D M G P p.840
. . . | 16 . . g.14561
TGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAG | TGCTCAGCCGAGTGTGGGACG c.2580
C T T A W F H S D W S S K | C S A E C G T p.860
. . . . . . g.14621
GGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAG c.2640
G I Q R R S V V C L G S G A A L G P G Q p.880
. . . . . . g.14681
GGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATG c.2700
G E A G A G T G Q S C P T G S R P P D M p.900
. . . . . . g.14741
CGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGT c.2760
R A C S L G P C E R T W R W Y T G P W G p.920
| 17 . . . . . . g.14922
GAG | TGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAA c.2820
E | C S S E C G S G T Q R R D I I C V S K p.940
. . . . . . g.14982
CTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCT c.2880
L G T E F N V T S P S N C S H L P R P P p.960
. . . . . . g.15042
GCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGC c.2940
A L Q P C Q G Q A C Q D R W F S T P W S p.980
| 18 . . . . . . g.15396
CCA | TGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACC c.3000
P | C S R S C Q G G T Q T R E V Q C L S T p.1000
. . . . . . g.15456
AACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGT c.3060
N Q T L S T R C P P Q L R P S R K R P C p.1020
. . | 19 . . . g.15670
AACAGCCAACCCTGCAGCCAGCGCCCTG | ATGATCAATGCAAGGACAGCTCTCCACATTGC c.3120
N S Q P C S Q R P D | D Q C K D S S P H C p.1040
. . . . . . g.15730
CCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGC c.3180
P L V V Q A R L C V Y P Y Y T A T C C R p.1060
. . . . g.15775
TCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGA c.3225
S C A H V L E R S P Q D P S X p.1074
. . . . . . g.15835
aaggggtccggggcaccttcacggttttctgtgccaccatcggtcacccattgatcggcc c.*60
. . . . . . g.15895
cactctgaaccccctggctctccagcctgtcccagtctcagcagggatgtcctccaggtg c.*120
. . . . . . g.15955
acagagggtggcaaggtgactgacacaaagtgactttcagggctgtggtcaggcccatgt c.*180
. . . . . . g.16015
ggtggtgtgatgggtgtgtgcacatatgcctcaggtgtgcttttgggactgcatggatat c.*240
. . . . . . g.16075
gtgtgtgctcaaacgtgtatcacttttcaaaaagaggttacacagactgagaaggacaag c.*300
. . . . . . g.16135
acctgtttccttgagactttcctaggtggaaaggaaagcaagtctgcagttccttgctaa c.*360
. . . . . . g.16195
tctgagctacttagagtgtggtctccccaccaactccagttttgtgccctaagcctcatt c.*420
. . . . . . g.16255
tctcatgttcagacctcacatcttctaagccgccctgtgtctctgaccccttctcatttg c.*480
. . . . . . g.16315
cctagtatctctgcccctgcctccctaattagctagggctggggtcagccactgccaatc c.*540
. . . . . . g.16375
ctgccttactcaggaaggcaggaggaaagagactgcctctccagagcaaggcccagctgg c.*600
. . . . . . g.16435
gcagagggtgaaaaagagaaatgtgagcatccgctcccccaccaccccgcccagccccta c.*660
. . . . . . g.16495
gccccactccctgcctcctgaaatggttcccacccagaactaatttattttttattaaag c.*720
. . g.16516
atggtcatgacaaatgagaaa c.*741
(downstream sequence)
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