(used for variant description)
(last modified July 22, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_004826.2 in the ECEL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034065.1, covering ECEL1 transcript NM_004826.2.
(upstream sequence)
. . g.5025
gggcgctgggagacaccggacgccc c.-181
. . . . . . g.5085
gctcggctgcgctgcggctcaggcccccgctcgggcccgacccgctcggtcaccgccggc c.-121
. . | 02 . . . g.6109
tcgggcgcgcacctgccgg | ctgcggccccagggccatgcggaggcccacgaggaggccgg c.-61
. . . . . . g.6169
cggccacgcgcatcccgtagcccaggtggcccaggtctgcaccgcggcggcctcggcgcc c.-1
. . . . . . g.6229
ATGGAGCCCCCGTATTCGCTGACGGCGCACTACGATGAGTTCCAAGAGGTCAAGTACGTG c.60
M E P P Y S L T A H Y D E F Q E V K Y V p.20
. . . . . . g.6289
AGCCGCTGCGGCGCGGGGGGCGCGCGCGGGGCCTCCCTGCCCCCGGGCTTCCCGTTGGGC c.120
S R C G A G G A R G A S L P P G F P L G p.40
. . . . . . g.6349
GCTGCGCGCAGCGCCACCGGGGCCCGGTCCGGGCTGCCGCGCTGGAACCGGCGCGAGGTG c.180
A A R S A T G A R S G L P R W N R R E V p.60
. . . . . . g.6409
TGCCTGCTGTCGGGGCTGGTGTTCGCCGCCGGCCTCTGCGCCATTCTGGCGGCTATGCTG c.240
C L L S G L V F A A G L C A I L A A M L p.80
. . . . . . g.6469
GCCCTCAAGTACCTGGGCCCGGTCGCGGCCGGCGGCGGCGCCTGTCCCGAGGGCTGCCCT c.300
A L K Y L G P V A A G G G A C P E G C P p.100
. . . . . . g.6529
GAGCGCAAGGCCTTCGCGCGCGCCGCTCGCTTCCTGGCCGCCAACCTGGACGCCAGCATC c.360
E R K A F A R A A R F L A A N L D A S I p.120
. . . . . . g.6589
GACCCATGCCAGGACTTCTACTCGTTCGCCTGCGGCGGTTGGCTGCGGCGCCACGCCATC c.420
D P C Q D F Y S F A C G G W L R R H A I p.140
. . . . . . g.6649
CCCGACGACAAGCTCACCTATGGCACCATCGCGGCCATCGGCGAGCAAAACGAGGAGCGC c.480
P D D K L T Y G T I A A I G E Q N E E R p.160
. . . . . . g.6709
CTACGGCGCCTGCTGGCGCGGCCCGGGGGTGGGCCTGGCGGCGCGGCCCAGCGCAAGGTG c.540
L R R L L A R P G G G P G G A A Q R K V p.180
. . . . . . g.6769
CGCGCCTTCTTCCGCTCGTGCCTCGACATGCGCGAGATCGAGCGACTGGGCCCGCGACCC c.600
R A F F R S C L D M R E I E R L G P R P p.200
. . . . . . g.6829
ATGCTAGAGGTCATCGAGGACTGCGGGGGCTGGGACCTGGGCGGCGCGGAGGAGCGTCCG c.660
M L E V I E D C G G W D L G G A E E R P p.220
. . . . . . g.6889
GGGGTCGCGGCGCGATGGGACCTCAACCGGCTGCTGTACAAGGCGCAGGGCGTGTACAGC c.720
G V A A R W D L N R L L Y K A Q G V Y S p.240
. . . . . . g.6949
GCCGCCGCGCTCTTCTCGCTCACGGTCAGCCTGGACGACAGGAACTCCTCGCGCTACGTC c.780
A A A L F S L T V S L D D R N S S R Y V p.260
| 03 . . . . . . g.7609
ATCCGC | ATTGACCAGGATGGGCTCACCCTGCCAGAGAGGACCCTGTACCTCGCTCAGGAT c.840
I R | I D Q D G L T L P E R T L Y L A Q D p.280
. | 04 . . . . . g.7776
GAGGACAGTGAGAAG | ATCCTGGCAGCATACAGGGTGTTCATGGAGCGAGTGCTCAGCCTC c.900
E D S E K | I L A A Y R V F M E R V L S L p.300
. . . . . . g.7836
CTGGGTGCAGACGCTGTGGAACAGAAGGCCCAAGAGATCCTGCAAGTGGAGCAGCAGCTG c.960
L G A D A V E Q K A Q E I L Q V E Q Q L p.320
| 05 . . . . . . g.7983
GCCAAC | ATCACTGTGTCAGAGCATGACGACCTACGGCGAGATGTCAGCTCCATGTACAAC c.1020
A N | I T V S E H D D L R R D V S S M Y N p.340
. . . | 06 . . g.8247
AAGGTGACGCTGGGGCAGCTGCAGAAGATCACCCCCCAC | TTGCGGTGGAAGTGGCTGCTA c.1080
K V T L G Q L Q K I T P H | L R W K W L L p.360
. . . . . . g.8307
GACCAGATCTTCCAGGAGGACTTCTCAGAGGAAGAGGAGGTGGTGCTGCTGGCGACAGAC c.1140
D Q I F Q E D F S E E E E V V L L A T D p.380
. . . . | 07 . . g.8615
TACATGCAGCAGGTGTCGCAGCTCATCCGCTCCACACCCCACCG | GGTCCTGCACAACTAC c.1200
Y M Q Q V S Q L I R S T P H R | V L H N Y p.400
. . . . . . g.8675
CTGGTGTGGCGCGTGGTGGTGGTCCTGAGTGAACACCTGTCCCCGCCATTCCGTGAGGCA c.1260
L V W R V V V V L S E H L S P P F R E A p.420
. . . . . . g.8735
CTGCACGAGCTGGCACAGGAGATGGAGGGCAGCGACAAGCCACAGGAGCTGGCCCGGGTC c.1320
L H E L A Q E M E G S D K P Q E L A R V p.440
. . . . . . g.8795
TGCTTGGGCCAGGCCAATCGCCACTTTGGCATGGCGCTTGGCGCCCTCTTTGTACATGAG c.1380
C L G Q A N R H F G M A L G A L F V H E p.460
. . | 08. . . . g.9341
CACTTCTCAGCTGCCAGCAAAGCCAAG | GTGCAGCAGCTAGTGGAAGACATCAAGTACATC c.1440
H F S A A S K A K | V Q Q L V E D I K Y I p.480
. . . . . . g.9401
CTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGG c.1500
L G Q R L E E L D W M D A E T R A A A R p.500
| 09 . . . . . . g.9697
GCCAAG | CTCCAGTACATGATGGTGATGGTCGGCTACCCGGACTTCCTGCTGAAACCCGAT c.1560
A K | L Q Y M M V M V G Y P D F L L K P D p.520
. . | 10 . . . . g.9907
GCTGTGGACAAGGAGTATGAG | TTTGAGGTCCATGAGAAGACCTACTTCAAGAACATCTTG c.1620
A V D K E Y E | F E V H E K T Y F K N I L p.540
. . . . . . g.9967
AACAGCATCCGCTTCAGCATCCAGCTCTCAGTTAAGAAGATTCGGCAGGAGGTGGACAAG c.1680
N S I R F S I Q L S V K K I R Q E V D K p.560
| 11 . . . . . . g.10269
TCCAC | GTGGCTGCTCCCCCCACAGGCGCTCAATGCCTACTATCTACCCAACAAGAACCAG c.1740
S T | W L L P P Q A L N A Y Y L P N K N Q p.580
| 12 . . . . . | 13 . g.10977
ATGG | TGTTCCCCGCGGGCATCCTGCAGCCCACCCTGTACGACCCTGACTTCCCACA | GTCT c.1800
M V | F P A G I L Q P T L Y D P D F P Q | S p.600
. . . . . . g.11037
CTCAACTACGGGGGCATCGGCACCATCATTGGACATGAGCTGACCCACGGCTACGACGAC c.1860
L N Y G G I G T I I G H E L T H G Y D D p.620
| 14 . . . . . . g.11248
TGGG | GGGGCCAGTATGACCGCTCAGGGAACCTGCTGCACTGGTGGACGGAGGCCTCCTAC c.1920
W G | G Q Y D R S G N L L H W W T E A S Y p.640
. . . . . . g.11308
AGCCGCTTCCTGCGAAAGGCTGAGTGCATCGTCCGTCTCTATGACAACTTCACTGTCTAC c.1980
S R F L R K A E C I V R L Y D N F T V Y p.660
| 15 . . . . . g.11717
AACCAGCGG | GTGAACGGGAAACACACGCTTGGGGAGAACATCGCAGATATGGGCGGCCTC c.2040
N Q R | V N G K H T L G E N I A D M G G L p.680
. | 16 . . . . . g.12054
AAGCTGGCCTACCAC | GCCTATCAGAAGTGGGTGCGGGAGCACGGCCCAGAGCACCCACTT c.2100
K L A Y H | A Y Q K W V R E H G P E H P L p.700
. . . . . | 17 . g.12356
CCCCGGCTCAAGTACACACATGACCAGCTCTTCTTCATTGCCTTTGCCCAG | AACTGGTGC c.2160
P R L K Y T H D Q L F F I A F A Q | N W C p.720
. . . . . . g.12416
ATCAAGCGGCGGTCGCAGTCCATCTACCTGCAGGTGCTGACTGACAAGCATGCCCCTGAG c.2220
I K R R S Q S I Y L Q V L T D K H A P E p.740
| 18 . . . . . g.12622
CACTACAG | GGTGCTGGGCAGTGTGTCCCAGTTTGAGGAGTTTGGCCGGGCTTTCCACTGT c.2280
H Y R | V L G S V S Q F E E F G R A F H C p.760
. . . . g.12670
CCCAAGGACTCACCCATGAACCCTGCCCACAAGTGTTCCGTGTGGTGA c.2328
P K D S P M N P A H K C S V W X p.775
. . . . . . g.12730
gcctggctgcccgcctgcacgcccccactgcccccgcacgaatcacctcctgctggctac c.*60
. . . . . . g.12790
cggggcaggcatgcacccggtgccagccccgctctgggcaccacctgccttccagcccct c.*120
. . . . . . g.12850
ccaggacccggtccccctgctgcccctcacttcaggaggggcctggagcagggtgaggct c.*180
. . . . . . g.12910
ggactttggggggctgtgagggaaatatactggggtccccagattctgctctaagggggc c.*240
. . . . . . g.12970
cagaccctctgccaggctggattgtacgggccccaccttcgctgtgttcttgctgcaaag c.*300
. . g.12996
tctggtcaataaatcactgcactgtt c.*326
(downstream sequence)
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