(used for variant description)
(last modified July 31, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_153717.2 in the EVC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008843.1, covering EVC transcript NM_153717.2.
(upstream sequence)
g.5004
ccct c.-181
. . . . . . g.5064
ccggctcggcgaagcagggaaggggagagaagcaggagtcgggagactgcacaggccaga c.-121
. . . . . . g.5124
aagtctgcggagcgggccgcgcccctggcccgcccgggctccaagtcccgcgtcgccgcc c.-61
. . . . . . g.5184
ctggcggggacggtgcagcaggcggcgggatgcggcggggcggcagcctgagcgccccgg c.-1
. . . . . . g.5244
ATGGCCCGCGGCGGGGCGGCCTGCAAGAGCGACGCGCGGCTGCTGCTGGGGCGGGACGCG c.60
M A R G G A A C K S D A R L L L G R D A p.20
. . . . . . g.5304
CTGCGGCCGGCGCCCGCCCTGCTGGCCCCCGCCGTGCTGCTGGGCGCCGCGCTCGGCCTC c.120
L R P A P A L L A P A V L L G A A L G L p.40
. . . . . | 02 . g.13057
GGCCTCGGCCTTTGGCTTGGCTGCCGCGCGGGCCGCCAGCGCACGCGACACCAG | AAAGAC c.180
G L G L W L G C R A G R Q R T R H Q | K D p.60
. . . . . . g.13117
GACACTCAAAATCTGCTCAAGAATTTGGAGTCTAATGCGCAGACCCCCTCGGAAACTGGC c.240
D T Q N L L K N L E S N A Q T P S E T G p.80
. . . . . . g.13177
TCCCCATCAAGGAGGAGGAAGAGAGAAGTGCAGATGTCGAAGGACAAGGAAGCTGTTGAT c.300
S P S R R R K R E V Q M S K D K E A V D p.100
| 03 . . . . . . g.23170
| GAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATC c.360
| E C E P P S N S N I T A F A L K A K V I p.120
. . | 04 . . . . g.25264
TACCCCATCAATCAGAAGTTCCGG | CCTCTGGCCGATGGCTCCTCCAACCCGTCTCTGCAT c.420
Y P I N Q K F R | P L A D G S S N P S L H p.140
. . . . . . g.25324
GAAAACTTAAAGCAGGCTGTTTTGCCACACCAGCCGGTAGAGGCCTCTCCTTCCAGCAGT c.480
E N L K Q A V L P H Q P V E A S P S S S p.160
. . . . . . g.25384
CTGGGGAGCCTGAGCCAGGGTGAGAAGGACGACTGCAGCTCCTCATCCAGCGTCCACTCG c.540
L G S L S Q G E K D D C S S S S S V H S p.180
. . . . . . g.25444
GCCACCAGCGATGACAGGTTTCTCAGCCGCACCTTCCTCCGGGTGAACGCCTTCCCTGAA c.600
A T S D D R F L S R T F L R V N A F P E p.200
. | 05. . . . . g.27197
GTGCTGGCCTGCGAGAG | TGTAGACGTTGACCTGTGTATCTACAGCCTTCACTTAAAAGAC c.660
V L A C E S | V D V D L C I Y S L H L K D p.220
. . . . | 06 . . g.35537
CTGCTGCATTTGGACACGGCACTGAGGCAGGAAAAGCATATG | ATGTTTATTCAGATTTTT c.720
L L H L D T A L R Q E K H M | M F I Q I F p.240
. . . . . . g.35597
AAAATGTGCCTCCTTGACCTTCTTCCTAAAAAGAAGTCAGATGATGAACTATACCAGAAG c.780
K M C L L D L L P K K K S D D E L Y Q K p.260
. . | 07 . . . . g.39046
ATCCTTTCAAAACAAGAAAAA | GATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTG c.840
I L S K Q E K | D L E E L E K G L Q V K L p.280
. . . . . . g.39106
TCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAA c.900
S N T E M S G A G D S E Y I T L A D V E p.300
. . . | 08 . . g.41972
AAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAAT | ATGGAAGCTTTCTGGAAACAG c.960
K K E R E Y S E Q L I D N | M E A F W K Q p.320
. . . . . . g.42032
ATGGCAAATATCCAGCACTTTCTTGTGGACCAGTTTAAGTGTTCCAGCTCCAAAGCCCGA c.1020
M A N I Q H F L V D Q F K C S S S K A R p.340
. . . . . . g.42092
CAGCTGATGATGACTCTGACGGAAAGAATGATTGCAGCCGAAGGGCTATTGTGCGATTCT c.1080
Q L M M T L T E R M I A A E G L L C D S p.360
. | 09 . . . . g.46681
CAGGAGCTGCAGGCTCTG | GACGCCCTGGAGAGGACGATGGGGCGGGCGCACATGGCAAAA c.1140
Q E L Q A L | D A L E R T M G R A H M A K p.380
. . . . . . g.46741
GTGATTGAGTTTCTGAAGCTGCAAGTCCAGGAGGAGACCAGGTGCCGGCTGGCTGCCATC c.1200
V I E F L K L Q V Q E E T R C R L A A I p.400
. . . . . . g.46801
TCCCACGGCCTGGAGCTGCTGGCTGGTGAGGGGAAGCTGTCCGGGCGGCAGAAGGAGGAG c.1260
S H G L E L L A G E G K L S G R Q K E E p.420
. . . . . | 10 . g.47593
CTGCTCACGCAGCAGCACAAGGCCTTCTGGCAGGAGGCAGAGCGCTTCAGCCGGG | AGTTT c.1320
L L T Q Q H K A F W Q E A E R F S R E | F p.440
. . . . . . g.47653
GTCCAGCGAGGCAAAGACCTGGTCACGGCGTCTCTGGCTCACCAGGTGGAGGGAACGGCA c.1380
V Q R G K D L V T A S L A H Q V E G T A p.460
. . . . . . g.47713
AAACTCACGCTGGCCCAAGAGGAGGAACAGAGAAGCTTCCTGGCTGAGGCCCAGCCGACT c.1440
K L T L A Q E E E Q R S F L A E A Q P T p.480
. . | 11 . . . . g.50103
GCTGACCCGGAAAAGTTTCTCGAG | GCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATG c.1500
A D P E K F L E | A F H E V L E R Q R L M p.500
. . . . . . g.50163
CAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGC c.1560
Q C D L E E E E N V R A T E A V V A L C p.520
| 12 . . . . . . g.77412
CAG | GAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTT c.1620
Q | E L Y F S T V D T F Q K F V D A L F L p.540
. . . . . . g.77472
CAGACGCTCCCTGGCATGACTGGCCTCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAA c.1680
Q T L P G M T G L P P E E C D Y L R Q E p.560
. . . . . . g.77532
GTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGG c.1740
V Q E N A A W Q L G K S N R F R R Q Q W p.580
. . . | 13 . . . g.87435
AAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAG | GTGTGGATGGAGGAGTGTGCGCTG c.1800
K L F Q E L L E Q D Q Q | V W M E E C A L p.600
. . . . . . g.87495
TCCAGCGTGCTGCAGACACACCTGCGGGAGGACCACGAGGGCACCATCCGCGGCGTCTTG c.1860
S S V L Q T H L R E D H E G T I R G V L p.620
. . | 14 . . . . g.90859
GGCCGACTGGGCGGCCTCACTGAAGA | GTCCACGCGGTGTGTCCTGCAGGGGCATGACCTG c.1920
G R L G G L T E E | S T R C V L Q G H D L p.640
. . . . . . g.90919
CTGTTGCGCTCAGCCCTCCGGAGGCTGGCACTCCGCGGCAACGCCCTGGCCACCCTGACG c.1980
L L R S A L R R L A L R G N A L A T L T p.660
. . . . . . g.90979
CAGATGCGGCTATCGGGGAAGAAGCACCTCCTGCAGGAGCTGCGGGAACAGCGTGCACTG c.2040
Q M R L S G K K H L L Q E L R E Q R A L p.680
. . . . . | 15. g.92392
GAGCAGGGGTCCTCCCAGTGCCTGGACGAGCATCAGTGGCAGCTGCTCAGGGCCCTG | GAG c.2100
E Q G S S Q C L D E H Q W Q L L R A L | E p.700
. . . . . . g.92452
GCGCGTGTGCTGGAGGAGGCCAGCCGGCTAGAGGAGGAAGCACAGCAGACACGGCTGCAG c.2160
A R V L E E A S R L E E E A Q Q T R L Q p.720
. . . . . . g.92512
CTCCAGCAGCGGCTCCTGGCCGAGGCCCAGGAGGTGGGGCAGCTTCTGCAGCAGCACATG c.2220
L Q Q R L L A E A Q E V G Q L L Q Q H M p.740
. . . . . . g.92572
GAGTGCGCCATTGGGCAGGCGCTGCTGGTGCATGCACGGAATGCAGCCACCAAGAGCCGG c.2280
E C A I G Q A L L V H A R N A A T K S R p.760
. . | 16 . . . . g.95789
GCCAAGGACAGGGATGACTTCAAG | AGGACACTGATGGAGGCGGCAGTGGAGAGCGTCTAC c.2340
A K D R D D F K | R T L M E A A V E S V Y p.780
. . . . . . g.95849
GTGACCAGCGCTGGTGTCAGCCGCCTGGTGCAGGCGTATTACCAGCAAATCGGAAGGATC c.2400
V T S A G V S R L V Q A Y Y Q Q I G R I p.800
. . . . | 17 . g.98544
ATGGAGGACCACGAGGAGAGAAAACTGCAGCACCTGAAGACCCTGCAGG | GTGAGAGGATG c.2460
M E D H E E R K L Q H L K T L Q G | E R M p.820
. . . . . . g.98604
GAAAATTACAAACTGCGGAAAAAGCAAGAACTCAGCAACCCTTCGTCGGGCAGCAGGACG c.2520
E N Y K L R K K Q E L S N P S S G S R T p.840
. . . . | 18 . . g.102023
GCAGGTGGCGCTCATGAGACCTCCCAGGCGGTCCACCAGAG | GATGCTGTCCCAGCAGAAG c.2580
A G G A H E T S Q A V H Q R | M L S Q Q K p.860
. . . . . . g.102083
AGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAG c.2640
R F L A Q F P V H Q Q M R L H A Q Q Q Q p.880
. . . . | 19 . g.103333
GCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAG | GAAGCTGAACAG c.2700
A G V M D L L E A Q L E T Q L Q | E A E Q p.900
. . . . . . g.103393
AACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTG c.2760
N F I S E L A A L A R V P L A E S K L L p.920
. . | 20 . . . . g.104180
CCTGCTAAGCGTGGGCTGCTAG | AGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCC c.2820
P A K R G L L E | K P L R T K R K K P L P p.940
. . . . . . g.104240
CAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACC c.2880
Q E R G D L G V P N N E D L A S G D Q T p.960
. | 21 . . . . . g.104802
TCAGGCTCACTCAG | CAGCAAAAGGCTGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGG c.2940
S G S L S | S K R L S Q Q E S E A G D S G p.980
. . . g.104841
AACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAG c.2979
N S K K M L K R R S N L X p.992
. . . . . . g.104901
tttaagaccagtcggtgggacaagacctgaagccctgggtctgggtgtgaattccacctt c.*60
. . . . . . g.104961
ccctcctgcagtgctgagaggcagcgaggacggagaggacagcggcatctctaggctctt c.*120
. . . . . . g.105021
ctgagagggacagagaaagaatagaaatgtgccctaaaagcataaatgagtatcacctga c.*180
. . . . . . g.105081
gaaaattaggcattcccgtcttggaaacacgtctctgtgagtttgcatttcatttggctt c.*240
. . . . . . g.105141
ggagccctggctcgatgcctcatggatctttctccccaaggagggacgtcttgaggggtc c.*300
. . . . . . g.105201
cgagcctcaggccaaggacccctgatgcagactctggaatccctggcccaaaggcctgtc c.*360
. . . . . . g.105261
tgggcccatctggggctgaggacacacagatacataatgacacctgcagaaatgtattct c.*420
. . . . . . g.105321
ctgaggacacttagaatatgaggaagagggtgtggcccaaccctcacttcacctggggag c.*480
. . . . . . g.105381
gggcttcttccggacagtagacaccctgcccgtgcagagagatgtcatgggggcacctgc c.*540
. . . . . . g.105441
tctccctgatagatgctgagagcatccagaaacttccagaccagccctctcaccacaccc c.*600
. . . . . . g.105501
agaagaggcctttcccatctggagagaagcttccagaccagcccttcacacaccacagcc c.*660
. . . . . . g.105561
aggaggggcctttcccacctggagagaaacttccagaccagcccctcataccacagccaa c.*720
. . . . . . g.105621
gaggggcctttctcacctggagagaaatttccagaccatcccctctcaccacagccagga c.*780
. . . . . . g.105681
gaggcctttcccaccggtagagaaacttccagaccagcccctcacaccacagccaagaga c.*840
. . . . . . g.105741
agcctttccagcctggagagaaacttccagaccagccctctcactacagccaggagaggc c.*900
. . . . . . g.105801
ctttcccgcctggaaacttccggacaagcctctcacacaccacagccaggagaggccttt c.*960
. . . . . . g.105861
cccacctggacagaaacttccagaccagcccctctcaccacagccaggagaggcctttac c.*1020
. . . . . . g.105921
cacctggagagaagcttccagaccagcccctcacaccacagccaggagaggcctttccca c.*1080
. . . . . . g.105981
cctggagagaaacttccagaccagcccctcataccacagccaagaggggcctttctcacc c.*1140
. . . . . . g.106041
tggagagaaacttccagaccagcccctcacaccaccgccaggagaggcctttcccaccgg c.*1200
. . . . . . g.106101
gagagaaacttccagaccagcccctcacaccacagccaggagaggcctttcccaccggga c.*1260
. . . . . . g.106161
gagaaacttccagaccagccctctcactacagccagaagaggcctttcccaccgggagag c.*1320
. . . . . . g.106221
gaacttccagaccagcccctcacaccacagccaggagaggcctttcccgcctggagagaa c.*1380
. . . . . . g.106281
gcttcaggccagctcctcacaccacagccaggagagaccttttctgcctggagagaaact c.*1440
. . . . . . g.106341
ttcagaccagccccacacaccacagccaggagaggccgttcctgcctggagagaagcttc c.*1500
. . . . . . g.106401
cagaccagcccttcacaccacagccaggagaggcctttcccacctggagagaaacttcca c.*1560
. . . . . . g.106461
gaccagcccctctcaccacagccaggagaggccgttcccacctggagggaaaattgctcc c.*1620
. . . . . . g.106521
tttgatggaggttagggactgtcaccctcagcactgtgaacataccgggcgagatcattc c.*1680
. . . . . . g.106581
ttcaggggaaggagctgcccagagcatcacaggatgttccagtgtccctggtctctgccc c.*1740
. . . . . . g.106641
accagatgccagcactcccaccattcgtggcaaccaaggatgtctccagacactgccccg c.*1800
. . . . . . g.106701
tgtccatggggttatcacccactgtgctgagtcaaagggtgccttgccctggtctaatcc c.*1860
. . . . . . g.106761
aggacatagccgtggatacgtccaaaaatccccagaacctagtgagccctctggctctgg c.*1920
. . . . . . g.106821
gagcccctatctcaggaattttcagggtcatttgtgacttttcatttcttaaaacctgaa c.*1980
. . . . . . g.106881
atagactctcttagaaacaagtgactccttcccagtggccaaaacttaatcatcagagcg c.*2040
. . . . . . g.106941
cttccttcagttcctcacccatcagccagtgggctctccaaagttaaccaacagctccct c.*2100
. . . . . . g.107001
cttgtggttcactaaaaaacttggttattccatggagttgtgcaaagctatggcttcctt c.*2160
. . . . . . g.107061
ggtgcaatattcttaaaacctgctttgcatagaaatcacttttgcccaggctggagtgca c.*2220
. . . . . . g.107121
gtggcgtgatctcggctcatggcaatctccatctcccgggttcaagcgattttcctgcct c.*2280
. . . . . . g.107181
cagcctccccagtagctgggactacagacgtgtgccaccacgcctggctaaatctttttt c.*2340
. . . . . . g.107241
gtattttattttagtagagacggggtttcaccatactggccaggctgctctcgaactcct c.*2400
. . . . . . g.107301
gacctcatcgtccacctgcctcggcctccccaaagtgctgagattaggcgttagccaccg c.*2460
. . . . . . g.107361
cgcccggccagaaatcacttttatattgtcacatgggccctctgcacagagtccgatggc c.*2520
. . . . . . g.107421
tcctcccggggaagcctgattttgtgacgtgtgtatagtaaatgcaggccctctggcagc c.*2580
. . . . . . g.107481
accataattggtcggttaccctgagcccagagctctgaaagcatctgtggaatgatcacg c.*2640
. . . . . . g.107541
ggacccttctcctctgagaaggctcccggctgcctccccgccaccgagcttgtagcctga c.*2700
. . . . . . g.107601
atgcctggctgtcgcatggagcattttgcttctggggtgtcttccttagccaaagggaac c.*2760
. . . . . . g.107661
gtgtcatttgctcgaccctggcccacccttgccgcccagctgttgtgctgggcacagtct c.*2820
. . . . . . g.107721
ggggcacaggcctccatgatgaagacgcgtgggctgtcggtgctttcatccgtcacaaac c.*2880
. . . . . . g.107781
tggcacctgtacctgccagcaggagcatgatggggacttccatgctggaattgctccctg c.*2940
. . . . . . g.107841
attaaaatgagatatggctatttggaagacactgcattttagccagtgtacctgggcaca c.*3000
. . . . . . g.107901
gactcggggctgccctgaagctgatgaaggcttgaaggacggaagggctgagccacatga c.*3060
. . . . . . g.107961
aggcagcactcagggccaggggagagagaagaggatcagcagtgcagccccaggatgcct c.*3120
. . . . . . g.108021
cgcaggtaccctgcctccattttggttaccatccccacttattatgggctgtgggctgtt c.*3180
. . . . . . g.108081
atggtgatggatggatgtggatttggaaggggaccatgagagatgatgtattatgatgaa c.*3240
. . g.108108
ctcatgatttaattctttggtgaaaat c.*3267
(downstream sequence)
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