(used for variant description)
(last modified January 23, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000501.2 in the ELN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009261.1, covering ELN transcript NM_000501.2.
(upstream sequence)
. . . g.5031
ctccctctttccctcacagccgacgaggcaa c.-61
. . . . . . g.5091
caattaggctttggggataaaacgaggtgcggagagcgggctggggcatttctccccgag c.-1
. . . . . . g.5151
ATGGCGGGTCTGACGGCGGCGGCCCCGCGGCCCGGAGTCCTCCTGCTCCTGCTGTCCATC c.60
M A G L T A A A P R P G V L L L L L S I p.20
. . | 02 . . . . g.12305
CTCCACCCCTCTCGGCCTGGAG | GGGTCCCTGGGGCCATTCCTGGTGGAGTTCCTGGAGGA c.120
L H P S R P G G | V P G A I P G G V P G G p.40
. | 03 . . . | 04 . . g.14627
GTCTTTTATCCAG | GGGCTGGTCTCGGAGCCCTTGGAGGAGGAG | CGCTGGGGCCTGGAGGC c.180
V F Y P G | A G L G A L G G G A | L G P G G p.60
. | 05 . . . . | 06 . g.19525
AAACCTCTTAAGCCAG | TTCCCGGAGGGCTTGCGGGTGCTGGCCTTGGGGCAG | GGCTCGGC c.240
K P L K P V | P G G L A G A G L G A G | L G p.80
. . . . . . g.19585
GCCTTCCCCGCAGTTACCTTTCCGGGGGCTCTGGTGCCTGGTGGAGTGGCTGACGCTGCT c.300
A F P A V T F P G A L V P G G V A D A A p.100
. . | 07 . . . . g.19922
GCAGCCTATAAAGCTGCTAAGGCTG | GCGCTGGGCTTGGTGGTGTCCCAGGAGTTGGTGGC c.360
A A Y K A A K A G | A G L G G V P G V G G p.120
. | 08 . . . . . g.20065
TTAGGAGTGTCTGCAG | GTGCGGTGGTTCCTCAGCCTGGAGCCGGAGTGAAGCCTGGGAAA c.420
L G V S A G | A V V P Q P G A G V K P G K p.140
| 09. . . . | 10 . g.22136
GTGCCGG | GTGTGGGGCTGCCAGGTGTATACCCAGGTGGCGTGCTCCCAG | GAGCTCGGTTC c.480
V P G | V G L P G V Y P G G V L P G | A R F p.160
. . . . . . g.22196
CCCGGTGTGGGGGTGCTCCCTGGAGTTCCCACTGGAGCAGGAGTTAAGCCCAAGGCTCCA c.540
P G V G V L P G V P T G A G V K P K A P p.180
| 11 . . . | 12 . . . g.23628
G | GTGTAGGTGGAGCTTTTGCTGGAATCCCAG | GAGTTGGACCCTTTGGGGGACCGCAACCT c.600
G | V G G A F A G I P G | V G P F G G P Q P p.200
. . . . | 13 . . g.24595
GGAGTCCCACTGGGGTATCCCATCAAGGCCCCCAAGCTGCCTG | GTGGCTATGGACTGCCC c.660
G V P L G Y P I K A P K L P G | G Y G L P p.220
. . | 14 . . . . g.25080
TACACCACAGGGAAACTGCCCTATG | GCTATGGGCCCGGAGGAGTGGCTGGTGCAGCGGGC c.720
Y T T G K L P Y G | Y G P G G V A G A A G p.240
. . | 15 . . . . g.25441
AAGGCTGGTTACCCAACAGGGACAG | GGGTTGGCCCCCAGGCAGCAGCAGCAGCGGCAGCT c.780
K A G Y P T G T G | V G P Q A A A A A A A p.260
. | 16 . . . . g.28694
AAAGCAGCAGCAAAGTTCG | GTGCTGGAGCAGCCGGAGTCCTCCCTGGTGTTGGAGGGGCT c.840
K A A A K F G | A G A A G V L P G V G G A p.280
. . . . | 17 . g.28838
GGTGTTCCTGGCGTGCCTGGGGCAATTCCTGGAATTGGAGGCATCGCAG | GCGTTGGGACT c.900
G V P G V P G A I P G I G G I A G | V G T p.300
. . . . | 18 . g.30077
CCAGCTGCAGCTGCAGCTGCAGCAGCAGCCGCTAAGGCAGCCAAGTATG | GAGCTGCTGCA c.960
P A A A A A A A A A A K A A K Y G | A A A p.320
. . . . . . g.30137
GGCTTAGTGCCTGGTGGGCCAGGCTTTGGCCCGGGAGTAGTTGGTGTCCCAGGAGCTGGC c.1020
G L V P G G P G F G P G V V G V P G A G p.340
. . . . . . g.30197
GTTCCAGGTGTTGGTGTCCCAGGAGCTGGGATTCCAGTTGTCCCAGGTGCTGGGATCCCA c.1080
V P G V G V P G A G I P V V P G A G I P p.360
. | 19 . . . . . g.31663
GGTGCTGCGGTTCCAG | GGGTTGTGTCACCAGAAGCAGCTGCTAAGGCAGCTGCAAAGGCA c.1140
G A A V P G | V V S P E A A A K A A A K A p.380
. | 20 . . . . . g.33224
GCCAAATACG | GGGCCAGGCCCGGAGTCGGAGTTGGAGGCATTCCTACTTACGGGGTTGGA c.1200
A K Y G | A R P G V G V G G I P T Y G V G p.400
. . . . . . g.33284
GCTGGGGGCTTTCCCGGCTTTGGTGTCGGAGTCGGAGGTATCCCTGGAGTCGCAGGTGTC c.1260
A G G F P G F G V G V G G I P G V A G V p.420
. . . . . | 21 . g.33580
CCTGGTGTCGGAGGTGTTCCCGGAGTCGGAGGTGTCCCGGGAGTTGGCATTTCCC | CCGAA c.1320
P G V G G V P G V G G V P G V G I S P | E p.440
. . . | 22. . . g.34566
GCTCAGGCAGCAGCTGCCGCCAAGGCTGCCAAGTACG | GAGTGGGGACCCCAGCAGCTGCA c.1380
A Q A A A A A K A A K Y G | V G T P A A A p.460
. . . | 23 . . . g.36815
GCTGCTAAAGCAGCCGCCAAAGCCGCCCAGTTTG | GGTTAGTTCCTGGTGTCGGCGTGGCT c.1440
A A K A A A K A A Q F G | L V P G V G V A p.480
. . . . . . g.36875
CCTGGAGTTGGCGTGGCTCCTGGTGTCGGTGTGGCTCCTGGAGTTGGCTTGGCTCCTGGA c.1500
P G V G V A P G V G V A P G V G L A P G p.500
. . . . . . g.36935
GTTGGCGTGGCTCCTGGAGTTGGTGTGGCTCCTGGCGTTGGCGTGGCTCCCGGCATTGGC c.1560
V G V A P G V G V A P G V G V A P G I G p.520
. | 24 . . . . . g.37087
CCTGGTGGAGTTGCAG | CTGCAGCAAAATCCGCTGCCAAGGTGGCTGCCAAAGCCCAGCTC c.1620
P G G V A A | A A K S A A K V A A K A Q L p.540
| 25 . . . . . . g.37338
C | GAGCTGCAGCTGGGCTTGGTGCTGGCATCCCTGGACTTGGAGTTGGTGTCGGCGTCCCT c.1680
R | A A A G L G A G I P G L G V G V G V P p.560
. . . . . . g.37398
GGACTTGGAGTTGGTGCTGGTGTTCCTGGACTTGGAGTTGGTGCTGGTGTTCCTGGCTTC c.1740
G L G V G A G V P G L G V G A G V P G F p.580
| 26. . . . | 27 . . g.40070
GGGGCAG | TACCTGGAGCCCTGGCTGCCGCTAAAGCAGCCAAATATG | GAGCAGCAGTGCCT c.1800
G A V | P G A L A A A K A A K Y G | A A V P p.600
. . . . . | 28 g.40215
GGGGTCCTTGGAGGGCTCGGGGCTCTCGGTGGAGTAGGCATCCCAGGCGGTGTGGTGG | GA c.1860
G V L G G L G A L G G V G I P G G V V G | p.620
. . . . . | 29 g.40526
GCCGGACCCGCCGCCGCCGCTGCCGCAGCCAAAGCTGCTGCCAAAGCCGCCCAGTTTG | GC c.1920
A G P A A A A A A A K A A A K A A Q F G | p.640
. . . . . . g.40586
CTAGTGGGAGCCGCTGGGCTCGGAGGACTCGGAGTCGGAGGGCTTGGAGTTCCAGGTGTT c.1980
L V G A A G L G G L G V G G L G V P G V p.660
. | 30 . . . . | 31 . g.42855
GGGGGCCTTGGAG | GTATACCTCCAGCTGCAGCCGCTAAAGCAGCTAAATACG | GTGCTGCT c.2040
G G L G G | I P P A A A A K A A K Y G | A A p.680
. . . . | 32 . . g.43649
GGCCTTGGAGGTGTCCTAGGGGGTGCCGGGCAGTTCCCACTTGGAG | GAGTGGCAGCAAGA c.2100
G L G G V L G G A G Q F P L G G | V A A R p.700
. . . | 33 . . . g.45589
CCTGGCTTCGGATTGTCTCCCATTTTCCCAG | GTGGGGCCTGCCTGGGGAAAGCTTGTGGC c.2160
P G F G L S P I F P G | G A C L G K A C G p.720
. g.45604
CGGAAGAGAAAATGA c.2175
R K R K X p.724
. . . . . . g.45664
gcttcctaggacccctgactcacgacctcatcaacgttggtgctactgcttggtggagaa c.*60
. . . . . . g.45724
tgtaaaccctttgtaaccccatcccatgcccctccgactccccaccccaggagggaacgg c.*120
. . . . . . g.45784
gcaggccgggcggccttgcagatccacagggcaaggaaacaagaggggagcggccaagtg c.*180
. . . . . . g.45844
ccccgaccaggaggccccctacttcagaggcaagggccatgtggtcctggccccccaccc c.*240
. . . . . . g.45904
catcccttcccacctaggagctccccctccacacagcctccatctccaggggaacttggt c.*300
. . . . . . g.45964
gctacacgctggtgctcttatcttcctggggggagggaggagggaagggtggcccctcgg c.*360
. . . . . . g.46024
ggaaccccctacctggggctcctctaaagatggtgcagacacttcctgggcagtcccagc c.*420
. . . . . . g.46084
tccccctgcccaccaggacccaccgttggctgccatccagttggtacccaagcacctgaa c.*480
. . . . . . g.46144
gcctcaaagctggattcgctctagcatccctcctctcctgggtccacttggccgtctcct c.*540
. . . . . . g.46204
ccccaccgatcgctgttccccacatctggggcgcttttgggttggaaaaccaccccacac c.*600
. . . . . . g.46264
tgggaatagccaccttgcccttgtagaatccatccgcccatccgtccattcatccatcgg c.*660
. . . . . . g.46324
tccgtccatccatgtccccagttgaccgcccggcaccactagctggctgggtgcacccac c.*720
. . . . . . g.46384
catcaacctggttgacctgtcatggccgcctgtgccctgcctccacccccatcctacact c.*780
. . . . . . g.46444
cccccagggcgtgcggggctgtgcagactggggtgccaggcatctcctccccacccgggg c.*840
. . . . . . g.46504
tgtccccacatgcagtactgtataccccccatccctccctcggtccactgaacttcagag c.*900
. . . . . . g.46564
cagttcccattcctgccccgcccatctttttgtgtctcgctgtgatagatcaataaatat c.*960
. . . . . . g.46624
tttattttttgtcctggatatttggggattatttttgattgttgatattctcttttggtt c.*1020
. . . . . . g.46684
ttattgttgtggttcattgaaaaaaaaagataatttttttttctgatccggggagctgta c.*1080
. . . . . . g.46744
tccccagtagaaaaaacattttaatcactctaatataactctggatgaaacacacctttt c.*1140
. . . . . . g.46804
tttttaataagaaaagagaattaactgcttcagaaatgactaataaatgaaaaaccttta c.*1200
g.46811
aaggaaa c.*1207
(downstream sequence)
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