(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_018127.6 in the ELAC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015808.1, covering ELAC2 transcript NM_018127.6.
(upstream sequence)
. . . . . g.5057
agctcggtgcacggcgcgctgattggctggatccgccatgcggagcggctaggtggt c.-61
. . . . . . g.5117
gcacgggaaacgcgggcgtaggtgaccggcggctttctcagttttggtggagacgggcgc c.-1
. . . . . . g.5177
ATGTGGGCGCTTTGCTCGCTGCTGCGGTCCGCGGCCGGACGCACCATGTCGCAGGGACGC c.60
M W A L C S L L R S A A G R T M S Q G R p.20
. . . . . . g.5237
ACCATATCGCAGGCACCCGCCCGCCGCGAGCGGCCGCGCAAGGACCCGCTGCGGCACCTG c.120
T I S Q A P A R R E R P R K D P L R H L p.40
. . . . . . g.5297
CGCACGCGAGAGAAGCGCGGACCGTCGGGGTGCTCCGGCGGCCCAAACACCGTGTACCTG c.180
R T R E K R G P S G C S G G P N T V Y L p.60
. . . . . . g.5357
CAGGTGGTGGCAGCGGGTAGCCGGGACTCGGGCGCCGCGCTCTACGTCTTCTCCGAGTTC c.240
Q V V A A G S R D S G A A L Y V F S E F p.80
| 02 . . . . . | 03 . g.6136
AACCG | GTATCTCTTCAACTGTGGAGAAGGCGTTCAGAGACTCATGCAGGAGCACAA | GTTA c.300
N R | Y L F N C G E G V Q R L M Q E H K | L p.100
. . . . . . g.6196
AAGGTTGCTCGCCTGGACAACATATTCCTGACACGAATGCACTGGTCTAATGTTGGGGGC c.360
K V A R L D N I F L T R M H W S N V G G p.120
| 04. . . . . . g.7285
TTAAGTG | GAATGATTCTTACTTTAAAGGAAACCGGGCTTCCAAAGTGTGTACTTTCTGGA c.420
L S G | M I L T L K E T G L P K C V L S G p.140
. | 05 . . . . . g.8616
CCTCCACAACTG | GAAAAATACCTCGAAGCAATCAAAATATTTTCTGGTCCATTGAAAGGA c.480
P P Q L | E K Y L E A I K I F S G P L K G p.160
. | 06 . . . . . g.9839
ATAGAACTGG | CTGTGCGGCCCCACTCTGCCCCAGAATACGAGGATGAAACCATGACAGTT c.540
I E L A | V R P H S A P E Y E D E T M T V p.180
. | 07 . . . . g.11323
TACCAGATCCCCATACACA | GTGAACAGAGGAGGGGAAAGCACCAACCATGGCAGAGTCCA c.600
Y Q I P I H S | E Q R R G K H Q P W Q S P p.200
. . . . . . g.11383
GAAAGGCCTCTCAGCAGGCTCAGTCCAGAGCGATCTTCAGACTCCGAGTCGAATGAAAAT c.660
E R P L S R L S P E R S S D S E S N E N p.220
. | 08 . . . . g.12434
GAGCCACACCTTCCACATG | GTGTTAGCCAGAGAAGAGGGGTCAGGGACTCTTCCCTGGTC c.720
E P H L P H G | V S Q R R G V R D S S L V p.240
. | 09 . . . . g.17127
GTAGCTTTCATCTGTAAG | CTTCACTTAAAGAGAGGAAACTTCTTGGTGCTCAAAGCAAAG c.780
V A F I C K | L H L K R G N F L V L K A K p.260
. | 10. . . . . g.17282
GAGATGGGCCTCCCAGT | TGGGACAGCTGCCATCGCTCCCATCATTGCTGCTGTCAAGGAC c.840
E M G L P V | G T A A I A P I I A A V K D p.280
. . . | 11 . . . g.17993
GGGAAAAGCATCACTCATGAAGGAAGAGAG | ATTTTGGCTGAAGAGCTGTGTACTCCTCCA c.900
G K S I T H E G R E | I L A E E L C T P P p.300
. . . . . . g.18053
GATCCTGGTGCTGCTTTTGTGGTGGTAGAATGTCCAGATGAAAGCTTCATTCAACCCATC c.960
D P G A A F V V V E C P D E S F I Q P I p.320
. . | 12 . . . . g.19527
TGTGAGAATGCCACCTTTCAGAG | GTACCAAGGAAAGGCAGATGCCCCCGTGGCCTTGGTG c.1020
C E N A T F Q R | Y Q G K A D A P V A L V p.340
. . . . . | 13 g.20486
GTTCACATGGCCCCAGCATCTGTGCTTGTGGACAGCAGGTACCAGCAGTGGATGGAGAG | G c.1080
V H M A P A S V L V D S R Y Q Q W M E R | p.360
. . . . . . g.20546
TTTGGGCCTGACACCCAGCACTTGGTCCTGAATGAGAACTGTGCCTCAGTTCACAACCTT c.1140
F G P D T Q H L V L N E N C A S V H N L p.380
. . . . . . g.20606
CGCAGCCACAAGATTCAAACCCAGCTCAACCTCATCCACCCGGACATCTTCCCCCTGCTC c.1200
R S H K I Q T Q L N L I H P D I F P L L p.400
. | 14 . . . . g.20747
ACCAGTTTCCGCTGTAAG | AAGGAGGGCCCCACCCTCAGTGTGCCCATGGTTCAGGGTGAA c.1260
T S F R C K | K E G P T L S V P M V Q G E p.420
. . . . | 15 . . g.22806
TGCCTCCTCAAGTACCAGCTCCGTCCCAGGAGGGAGTGGCAGAG | GGATGCCATTATTACT c.1320
C L L K Y Q L R P R R E W Q R | D A I I T p.440
. . . . . . g.22866
TGCAATCCTGAGGAATTCATAGTTGAGGCGCTGCAGCTTCCCAACTTCCAGCAGAGCGTG c.1380
C N P E E F I V E A L Q L P N F Q Q S V p.460
. . . . | 16 . . g.24573
CAGGAGTACAGGAGGAGTGCGCAGGACGGCCCAGCCCCAGCAG | AGAAAAGAAGTCAGTAC c.1440
Q E Y R R S A Q D G P A P A E | K R S Q Y p.480
. . . . . . g.24633
CCAGAAATCATCTTCCTTGGAACAGGGTCTGCCATCCCGATGAAGATTCGAAATGTCAGT c.1500
P E I I F L G T G S A I P M K I R N V S p.500
. . | 17 . . . . g.26419
GCCACACTTGTCAACATAAG | CCCCGACACGTCTCTGCTACTGGACTGTGGTGAGGGCACA c.1560
A T L V N I S | P D T S L L L D C G E G T p.520
. . . . . . g.26479
TTTGGGCAGCTGTGCCGTCATTACGGAGACCAGGTGGACAGGGTCCTGGGCACCCTGGCT c.1620
F G Q L C R H Y G D Q V D R V L G T L A p.540
. . . | 18 . . g.27107
GCTGTGTTTGTGTCCCACCTGCACGCAGATCACCACACG | GGCTTGCCAAGTATCTTGCTG c.1680
A V F V S H L H A D H H T | G L P S I L L p.560
. | 19 . . . . g.27294
CAGAGAGAACGCGCCTTG | GCATCTTTGGGAAAGCCGCTTCACCCTTTGCTGGTGGTTGCC c.1740
Q R E R A L | A S L G K P L H P L L V V A p.580
. . . . . . g.27354
CCCAACCAGCTCAAAGCCTGGCTCCAGCAGTACCACAACCAGTGCCAGGAGGTCCTGCAC c.1800
P N Q L K A W L Q Q Y H N Q C Q E V L H p.600
| 20 . . . . . g.28054
CACATCAG | TATGATTCCTGCCAAATGCCTTCAGGAAGGGGCTGAGATCTCCAGTCCTGCA c.1860
H I S | M I P A K C L Q E G A E I S S P A p.620
. . . . | 21 . g.28192
GTGGAAAGATTGATCAGTTCGCTGTTGCGAACATGTGATTTGGAAGAG | TTTCAGACCTGT c.1920
V E R L I S S L L R T C D L E E | F Q T C p.640
. . . . . . g.28252
CTGGTGCGGCACTGCAAGCATGCGTTTGGCTGTGCGCTGGTGCACACCTCTGGCTGGAAA c.1980
L V R H C K H A F G C A L V H T S G W K p.660
. . . . | 22 . g.28572
GTGGTCTATTCCGGGGACACCATGCCCTGCGAGGCTCTGGTCCGGATGG | GGAAAGATGCC c.2040
V V Y S G D T M P C E A L V R M G | K D A p.680
. . . . . . g.28632
ACCCTCCTGATACATGAAGCCACCCTGGAAGATGGTTTGGAAGAGGAAGCAGTGGAAAAG c.2100
T L L I H E A T L E D G L E E E A V E K p.700
| 23 . . . . . g.29285
ACACACAG | CACAACGTCCCAAGCCATCAGCGTGGGGATGCGGATGAACGCGGAGTTCATT c.2160
T H S | T T S Q A I S V G M R M N A E F I p.720
. . . . . . g.29345
ATGCTGAACCACTTCAGCCAGCGCTATGCCAAGGTCCCCCTCTTCAGCCCCAACTTCAGC c.2220
M L N H F S Q R Y A K V P L F S P N F S p.740
. . . | 24 . . . g.30046
GAGAAAGTGGGAGTTGCCTTTGACCACATGAAG | GTCTGCTTTGGAGACTTTCCAACAATG c.2280
E K V G V A F D H M K | V C F G D F P T M p.760
. . . . . . g.30106
CCCAAGCTGATTCCCCCACTGAAAGCCCTGTTTGCTGGCGACATCGAGGAGATGGAGGAG c.2340
P K L I P P L K A L F A G D I E E M E E p.780
. . . . . . g.30166
CGCAGGGAGAAGCGGGAGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCA c.2400
R R E K R E L R Q V R A A L L S R E L A p.800
. . . . . . g.30226
GGCGGCCTGGAGGATGGGGAGCCTCAGCAGAAGCGGGCCCACACAGAGGAGCCACAGGCC c.2460
G G L E D G E P Q Q K R A H T E E P Q A p.820
. . g.30247
AAGAAGGTCAGAGCCCAGTGA c.2481
K K V R A Q X p.826
. . . . . . g.30307
agatctgggagaccctgaactcagaaggctgtgtgtcttctgccccacgcacgcacccgt c.*60
. . . . . . g.30367
atctgccctccttgctggtagaagctgaagagcacggtcccccaggaggcagctcaggat c.*120
. . . . . . g.30427
aggtggtatggagctgtgccgaggcttgggctcccacataagcactagtctatagatgcc c.*180
. . . . . . g.30487
tcttaggactggtgcctggcacagccgcgggccaggaggctgccacacggaagcaagcag c.*240
. . . . . . g.30547
atgaactaatttcatttcaaggcagtttttaaagaagtcttggaaacagacggcggcacc c.*300
. . . . . . g.30607
tttcctctaatccagcaaagtgattccctgcacaccagagacaagcagagtaacaggatc c.*360
. . . . . . g.30667
agtgggtctaagtgtccgagacttaacgaaaatagtatttcagctgcaataaagattgag c.*420
. . . . . . g.30727
tttgcaattgtgagttcttttgcttcctcctgctgctgctacagagcagggtctgctgtg c.*480
. . . . . . g.30787
caccaccttggagaaggctctctgtgctgtagtgtggcagctgcctggtacccgggtggc c.*540
. . . . . . g.30847
ttggaagaagtcagctcccgtcgtagtgagcacctctggaacctgtcctcagagagccac c.*600
. . . . . . g.30907
ccttattcgccaagtctttttgacaactcgagctgtgccagctcacagcagggcgtgctt c.*660
. . . . . . g.30967
tctctatcaatcaatcaatcaatcaatcaaatcaatcagtgagagcctggctgggctggt c.*720
. . . . . . g.31027
gtcattggtcagggaaatgcaagtcttctggtggttctgggtaaaagtggagacaataga c.*780
. . . . . . g.31087
tttgctgtgttgttgcttccatactgagaggagtgaggatcactttgccctcgaaggttt c.*840
. . . . . . g.31147
tgagaaatggcacacggggctggtttccattgtcctccttgcgggatttacagacgtgga c.*900
. . . . . . g.31207
ttagtgctcgacaaatggagagcattttccaaggaagtaagtaagtaaagtaagtaagta c.*960
. . . . . . g.31267
agtaagtaagttgaatctagtatttattgtgtatattccctacccaggagaatgtaaaaa c.*1020
. . . . . . g.31327
gaagagctttaaaaactcaaaagacaagcaagcgagagatcagccagggacctggcttta c.*1080
. . . . . . g.31387
cacaggtggtgaccttcaggctccatcccggtgtgcatttgagattgacggccatgtccc c.*1140
. . . . . . g.31447
cgcaggtttattaaagcaagaacagatgccaagctcagggataataaatctattttaata c.*1200
g.31453
acgtta c.*1206
(downstream sequence)
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