(used for variant description)
(last modified June 21, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003183.4 in the ADAM17 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029873.1, covering ADAM17 transcript NM_003183.4.
(upstream sequence)
g.5003
acc c.-181
. . . . . . g.5063
tgcacttctgggggcgtcgagcctggcggtagaatcttcccagtaggcggcgcgggaggg c.-121
. . . . . . g.5123
aaaagaggattgaggggctaggccgggcggatcccgtcctcccccgatgtgagcagtttt c.-61
. . . . . . g.5183
ccgaaaccccgtcaggcgaaggctgcccagagaggtggagtcggtagcggggccgggaac c.-1
. . . . . . g.5243
ATGAGGCAGTCTCTCCTATTCCTGACCAGCGTGGTTCCTTTCGTGCTGGCGCCGCGACCT c.60
M R Q S L L F L T S V V P F V L A P R P p.20
. . . | 02. . . g.17526
CCGGATGACCCGGGCTTCGGCCCCCACCAGAGACTCG | AGAAGCTTGATTCTTTGCTCTCA c.120
P D D P G F G P H Q R L E | K L D S L L S p.40
. . . . . . g.17586
GACTACGATATTCTCTCTTTATCTAATATCCAGCAGCATTCGGTAAGAAAAAGAGATCTA c.180
D Y D I L S L S N I Q Q H S V R K R D L p.60
. . . . . | 03 . g.23970
CAGACTTCAACACATGTAGAAACACTACTAACTTTTTCAGCTTTGAAAAG | GCATTTTAAA c.240
Q T S T H V E T L L T F S A L K R | H F K p.80
. . . . . . g.24030
TTATACCTGACATCAAGTACTGAACGTTTTTCACAAAATTTCAAGGTCGTGGTGGTGGAT c.300
L Y L T S S T E R F S Q N F K V V V V D p.100
. . . . . . g.24090
GGTAAAAACGAAAGCGAGTACACTGTAAAATGGCAGGACTTCTTCACTGGACACGTGGTT c.360
G K N E S E Y T V K W Q D F F T G H V V p.120
| 04 . . . . . . g.24925
G | GTGAGCCTGACTCTAGGGTTCTAGCCCACATAAGAGATGATGATGTTATAATCAGAATC c.420
G | E P D S R V L A H I R D D D V I I R I p.140
. . . | 05 . . . g.32864
AACACAGATGGGGCCGAATATAACATAGAG | CCACTTTGGAGATTTGTTAATGATACCAAA c.480
N T D G A E Y N I E | P L W R F V N D T K p.160
. . . . . . g.32924
GACAAAAGAATGTTAGTTTATAAATCTGAAGATATCAAGAATGTTTCACGTTTGCAGTCT c.540
D K R M L V Y K S E D I K N V S R L Q S p.180
. . . . . . g.32984
CCAAAAGTGTGTGGTTATTTAAAAGTGGATAATGAAGAGTTGCTCCCAAAAGGGTTAGTA c.600
P K V C G Y L K V D N E E L L P K G L V p.200
. | 06 . . . . g.34585
GACAGAGAACCACCTGAAG | AGCTTGTTCATCGAGTGAAAAGAAGAGCTGACCCAGATCCC c.660
D R E P P E E | L V H R V K R R A D P D P p.220
. . . . . . g.34645
ATGAAGAACACGTGTAAATTATTGGTGGTAGCAGATCATCGCTTCTACAGATACATGGGC c.720
M K N T C K L L V V A D H R F Y R Y M G p.240
. . . | 07 . . . g.37477
AGAGGGGAAGAGAGTACAACTACAAATTACTTA | ATAGAGCTAATTGACAGAGTTGATGAC c.780
R G E E S T T T N Y L | I E L I D R V D D p.260
. . . . . . g.37537
ATCTATCGGAACACTTCATGGGATAATGCAGGTTTTAAAGGCTATGGAATACAGATAGAG c.840
I Y R N T S W D N A G F K G Y G I Q I E p.280
| 08 . . . . . . g.39529
CAG | ATTCGCATTCTCAAGTCTCCACAAGAGGTAAAACCTGGTGAAAAGCACTACAACATG c.900
Q | I R I L K S P Q E V K P G E K H Y N M p.300
. . . . . | 09. g.42544
GCAAAAAGTTACCCAAATGAAGAAAAGGATGCTTGGGATGTGAAGATGTTGCTAGAG | CAA c.960
A K S Y P N E E K D A W D V K M L L E | Q p.320
. . . . . . g.42604
TTTAGCTTTGATATAGCTGAGGAAGCATCTAAAGTTTGCTTGGCACACCTTTTCACATAC c.1020
F S F D I A E E A S K V C L A H L F T Y p.340
. . . . . . g.42664
CAAGATTTTGATATGGGAACTCTTGGATTAGCTTATGTTGGCTCTCCCAGAGCAAACAGC c.1080
Q D F D M G T L G L A Y V G S P R A N S p.360
. . | 10 . . . . g.42837
CATGGAGGTGTTTGTCCAAAGG | CTTATTATAGCCCAGTTGGGAAGAAAAATATCTATTTG c.1140
H G G V C P K A | Y Y S P V G K K N I Y L p.380
. . . . . | 11 . g.50666
AATAGTGGTTTGACGAGCACAAAGAATTATGGTAAAACCATCCTTACAAAG | GAAGCTGAC c.1200
N S G L T S T K N Y G K T I L T K | E A D p.400
. . . . . . g.50726
CTGGTTACAACTCATGAATTGGGACATAATTTTGGAGCAGAACATGATCCGGATGGTCTA c.1260
L V T T H E L G H N F G A E H D P D G L p.420
. . . . . . g.50786
GCAGAATGTGCCCCGAATGAGGACCAGGGAGGGAAATATGTCATGTATCCCATAGCTGTG c.1320
A E C A P N E D Q G G K Y V M Y P I A V p.440
. . | 12 . . . . g.55459
AGTGGCGATCACGAGAACAATAAG | ATGTTTTCAAACTGCAGTAAACAATCAATCTATAAG c.1380
S G D H E N N K | M F S N C S K Q S I Y K p.460
. . . . . . g.55519
ACCATTGAAAGTAAGGCCCAGGAGTGTTTTCAAGAACGCAGCAATAAAGTTTGTGGGAAC c.1440
T I E S K A Q E C F Q E R S N K V C G N p.480
. . . . . . g.55579
TCGAGGGTGGATGAAGGAGAAGAGTGTGATCCTGGCATCATGTATCTGAACAACGACACC c.1500
S R V D E G E E C D P G I M Y L N N D T p.500
. . . . | 13 . . g.58528
TGCTGCAACAGCGACTGCACGTTGAAGGAAGGTGTCCAGTGCAG | TGACAGGAACAGTCCT c.1560
C C N S D C T L K E G V Q C S | D R N S P p.520
. . . . . . g.58588
TGCTGTAAAAACTGTCAGTTTGAGACTGCCCAGAAGAAGTGCCAGGAGGCGATTAATGCT c.1620
C C K N C Q F E T A Q K K C Q E A I N A p.540
. . | 14 . . . g.63572
ACTTGCAAAGGCGTGTCCTACTGCACAG | GTAATAGCAGTGAGTGCCCGCCTCCAGGAAAT c.1680
T C K G V S Y C T G | N S S E C P P P G N p.560
. . . . . . g.63632
GCTGAAGATGACACTGTTTGCTTGGATCTTGGCAAGTGTAAGGATGGGAAATGCATCCCT c.1740
A E D D T V C L D L G K C K D G K C I P p.580
. . . . | 15 . . g.66038
TTCTGCGAGAGGGAACAGCAGCTGGAGTCCTGTGCATGTAATG | AAACTGACAACTCCTGC c.1800
F C E R E Q Q L E S C A C N E | T D N S C p.600
. . . . . . g.66098
AAGGTGTGCTGCAGGGACCTTTCTGGCCGCTGTGTGCCCTATGTCGATGCTGAACAAAAG c.1860
K V C C R D L S G R C V P Y V D A E Q K p.620
. . . . . | 16 . g.66969
AACTTATTTTTGAGGAAAGGAAAGCCCTGTACAGTAGGATTTTGTGACATGAAT | GGCAAA c.1920
N L F L R K G K P C T V G F C D M N | G K p.640
. . . . . . g.67029
TGTGAGAAACGAGTACAGGATGTAATTGAACGATTTTGGGATTTCATTGACCAGCTGAGC c.1980
C E K R V Q D V I E R F W D F I D Q L S p.660
. | 17 . . . . . g.67849
ATCAATACTTTTG | GAAAGTTTTTAGCAGACAACATCGTTGGGTCTGTCCTGGTTTTCTCC c.2040
I N T F G | K F L A D N I V G S V L V F S p.680
. . . . | 18 . . g.69655
TTGATATTTTGGATTCCTTTCAGCATTCTTGTCCATTGTGTG | GATAAGAAATTGGATAAA c.2100
L I F W I P F S I L V H C V | D K K L D K p.700
. . . | 19 . . . g.70297
CAGTATGAATCTCTGTCTCTGTTTCACCCCAGT | AACGTCGAAATGCTGAGCAGCATGGAT c.2160
Q Y E S L S L F H P S | N V E M L S S M D p.720
. . . . . . g.70357
TCTGCATCGGTTCGCATTATCAAACCCTTTCCTGCGCCCCAGACTCCAGGCCGCCTGCAG c.2220
S A S V R I I K P F P A P Q T P G R L Q p.740
. . . . . . g.70417
CCTGCCCCTGTGATCCCTTCGGCGCCAGCAGCTCCAAAACTGGACCACCAGAGAATGGAC c.2280
P A P V I P S A P A A P K L D H Q R M D p.760
. . . . . . g.70477
ACCATCCAGGAAGACCCCAGCACAGACTCACATATGGACGAGGATGGGTTTGAGAAGGAC c.2340
T I Q E D P S T D S H M D E D G F E K D p.780
. . . . . . g.70537
CCCTTCCCAAATAGCAGCACAGCTGCCAAGTCATTTGAGGATCTCACGGACCATCCGGTC c.2400
P F P N S S T A A K S F E D L T D H P V p.800
. . . . . . g.70597
ACCAGAAGTGAAAAGGCTGCCTCCTTTAAACTGCAGCGTCAGAATCGTGTTGACAGCAAA c.2460
T R S E K A A S F K L Q R Q N R V D S K p.820
. g.70612
GAAACAGAGTGCTAA c.2475
E T E C X p.824
. . . . . . g.70672
tttagttctcagctcttctgacttaagtgtgcaaaatatttttatagatttgacctacaa c.*60
. . . . . . g.70732
atcaatcacagcttgtattttgtgaagactgggaagtgacttagcagatgctggtcatgt c.*120
. . . . . . g.70792
gtttgaacttcctgcaggtaaacagttcttgtgtggtttggcccttctccttttgaaaag c.*180
. . . . . . g.70852
gtaaggtgaaggtgaatctagcttattttgaggctttcaggttttagtttttaaaatatc c.*240
. . . . . . g.70912
ttttgacctgtggtgcaaaagcagaaaatacagctggattgggttatgaatatttacgtt c.*300
. . . . . . g.70972
tttgtaaattaatcttttatattgataacagcactgactagggaaatgatcagttttttt c.*360
. . . . . . g.71032
ttatacactgtaatgaaccgctgaatatgaggcatttggcatttatttgtgatgacaact c.*420
. . . . . . g.71092
ggaatagttttttttttttttttttttttttgccttcaactaaaaacaaaggagataaat c.*480
. . . . . . g.71152
ctagtatacattgtctctaaattgtgggtctatttctagttattacccagagtttttatg c.*540
. . . . . . g.71212
tagcagggaaaatatatatctaaatttagaaatcatttgggttaatatggctcttcataa c.*600
. . . . . . g.71272
ttctaagactaatgctctctagaaacctaaccacctaccttacagtgagggctatacatg c.*660
. . . . . . g.71332
gtagccagttgaatttatggaatctaccaactgtttagggccctgatttgctgggcagtt c.*720
. . . . . . g.71392
tttctgtattttataagtatcttcatgtatccctgttactgatagggatacatgctctta c.*780
. . . . . . g.71452
gaaaattcactattggctgggagtggtggctcatgcctgtaatcccagcacttggagagg c.*840
. . . . . . g.71512
ctgaggttgcgccactacactccagcctgggtgacagagtgagactctgcctcaaaaaaa c.*900
. g.71526
aaaaaaaaaaaaaa c.*914
(downstream sequence)
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