(used for variant description)
(last modified May 29, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_018063.3 in the HELLS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering HELLS transcript NM_018063.3.
(upstream sequence)
. . . . g.5045
ggggatttggctagaaggctgggccggcagcggttgtgaggagtt c.-61
. . . . . . g.5105
agctcgcggcattgcaggctctgagaggaggggacccggttcccgggtgagtgtccaggc c.-1
. . . | 02 . . . g.5589
ATGCCAGCGGAACGGCCCGCGGGCAGCGGCG | GCTCGGAGGCTCCAGCAATGGTTGAACAA c.60
M P A E R P A G S G G | S E A P A M V E Q p.20
. . . . . . g.5649
CTGGACACTGCTGTGATTACCCCGGCCATGCTAGAAGAGGAAGAACAGCTTGAAGCTGCT c.120
L D T A V I T P A M L E E E E Q L E A A p.40
. . . | 03 . . . g.13336
GGACTAGAGAGAGAGCGGAAGATGCTGGAAAAG | GCTCGCATGTCTTGGGATAGAGAGTCG c.180
G L E R E R K M L E K | A R M S W D R E S p.60
. . . . . . g.13396
ACAGAAATTCGGTACCGTAGACTTCAACATTTGCTTGAAAAAAGCAATATATACTCCAAA c.240
T E I R Y R R L Q H L L E K S N I Y S K p.80
. . . | 04 . . . g.17346
TTTTTATTGACGAAAATGGAACAGCAACAATTAGAG | GAACAGAAGAAGAAAGAAAAATTG c.300
F L L T K M E Q Q Q L E | E Q K K K E K L p.100
. . . | 05 . . . g.21901
GAGAGAAAAAAGGAGTCTTTAAAAGTTAAAAAG | GGTAAAAATTCAATTGATGCAAGTGAA c.360
E R K K E S L K V K K | G K N S I D A S E p.120
. | 06 . . . . . g.22045
GAGAAGCCAG | TTATGAGGAAAAAAAGAGGAAGAGAAGATGAATCATACAATATTTCAGAG c.420
E K P V | M R K K R G R E D E S Y N I S E p.140
. | 07 . . . . | 08. g.33146
GTCATGTCAAAAGAG | GAAATTTTGTCTGTGGCTAAAAAAAATAAAAAGGAGAATGAG | GAT c.480
V M S K E | E I L S V A K K N K K E N E | D p.160
. . . . . . g.33206
GAAAACTCCTCCTCTACTAATCTCTGTGTGGAAGATCTTCAGAAAAATAAAGATTCGAAT c.540
E N S S S T N L C V E D L Q K N K D S N p.180
. . . . . . g.33266
AGTATAATTAAAGATAGATTGTCTGAAACGGTTAGGCAGAATACTAAATTCTTTTTTGAC c.600
S I I K D R L S E T V R Q N T K F F F D p.200
. . . . . . g.33326
CCAGTCCGGAAGTGTAATGGTCAGCCAGTACCTTTTCAACAACCAAAGCACTTCACTGGA c.660
P V R K C N G Q P V P F Q Q P K H F T G p.220
. . . . | 09 . . g.33752
GGAGTGATGCGATGGTACCAAGTAGAAGGCATGGAATGGCTTAGG | ATGCTTTGGGAAAAT c.720
G V M R W Y Q V E G M E W L R | M L W E N p.240
. . . . . . g.33812
GGAATTAATGGCATTTTAGCAGATGAAATGGGATTGGGTAAGACAGTTCAGTGCATTGCT c.780
G I N G I L A D E M G L G K T V Q C I A p.260
. . . . . . g.33872
ACTATTGCATTGATGATTCAGAGAGGAGTACCAGGACCTTTTCTTGTCTGTGGCCCTTTG c.840
T I A L M I Q R G V P G P F L V C G P L p.280
. . . . | 10 . g.35857
TCTACACTTCCTAACTGGATGGCTGAATTCAAAAGATTTACACCAGAT | ATCCCTACAATG c.900
S T L P N W M A E F K R F T P D | I P T M p.300
. . . . . . g.35917
TTATATCATGGAACCCAGGAGGAACGTCAAAAATTGGTAAGAAATATTTACAAACGGAAA c.960
L Y H G T Q E E R Q K L V R N I Y K R K p.320
. . . . . . g.35977
GGGACTTTGCAGATTCATCCTGTGGTAATCACGTCATTTGAAATAGCCATGAGAGACCGA c.1020
G T L Q I H P V V I T S F E I A M R D R p.340
. | 11 . . . . . g.40557
AATGCGTTACAG | CATTGCTATTGGAAATACTTAATAGTAGATGAAGGACACAGGATTAAG c.1080
N A L Q | H C Y W K Y L I V D E G H R I K p.360
. . . . . . g.40617
AATATGAAGTGCCGTCTAATCAGGGAGTTAAAACGATTCAATGCTGATAACAAACTTCTT c.1140
N M K C R L I R E L K R F N A D N K L L p.380
. . . . . . g.40677
TTGACTGGTACTCCCTTGCAAAACAATTTATCAGAACTTTGGTCATTGCTAAACTTTTTG c.1200
L T G T P L Q N N L S E L W S L L N F L p.400
. . | 12 . . . g.42177
TTGCCAGATGTATTTGATGACTTGAAAAG | CTTTGAGTCTTGGTTTGACATCACTAGTCTT c.1260
L P D V F D D L K S | F E S W F D I T S L p.420
. . . . . . g.42237
TCTGAAACTGCTGAAGATATTATTGCTAAAGAAAGAGAACAGAATGTATTGCATATGCTG c.1320
S E T A E D I I A K E R E Q N V L H M L p.440
| 13 . . . . . . g.47466
CACCAG | ATTTTAACACCTTTCTTATTGAGAAGACTGAAGTCTGATGTTGCTCTTGAAGTT c.1380
H Q | I L T P F L L R R L K S D V A L E V p.460
. . . . . . g.47526
CCTCCTAAACGAGAAGTAGTCGTTTATGCTCCACTTTCAAAGAAGCAGGAGATCTTTTAT c.1440
P P K R E V V V Y A P L S K K Q E I F Y p.480
. . . . | 14 . g.49608
ACAGCCATTGTGAACCGTACAATTGCAAACATGTTTGGATCCAGTGAG | AAAGAAACAATT c.1500
T A I V N R T I A N M F G S S E | K E T I p.500
. . . . . . g.49668
GAGTTAAGTCCTACTGGTCGACCAAAACGACGAACTAGAAAATCAATAAATTACAGCAAA c.1560
E L S P T G R P K R R T R K S I N Y S K p.520
. . . . . . g.49728
ATAGATGATTTCCCTAATGAATTGGAAAAACTGATCAGTCAAATACAGCCAGAGGTGGAC c.1620
I D D F P N E L E K L I S Q I Q P E V D p.540
| 15 . . . . . g.49873
CGAGAAAG | AGCTGTTGTGGAAGTGAATATCCCTGTAGAATCTGAAGTTAATCTGAAGCTG c.1680
R E R | A V V E V N I P V E S E V N L K L p.560
. . . . . . g.49933
CAGAATATAATGATGCTACTTCGTAAATGTTGTAATCATCCATATTTGATTGAATATCCT c.1740
Q N I M M L L R K C C N H P Y L I E Y P p.580
. . | 16. . . . g.51445
ATAGACCCTGTTACACAAGAATTTAAG | ATCGATGAAGAATTGGTAACAAATTCTGGGAAG c.1800
I D P V T Q E F K | I D E E L V T N S G K p.600
. . . . . | 17 . g.51587
TTCTTGATTTTGGATCGAATGCTGCCAGAACTAAAAAAAAGAGGTCACAAG | GTGCTGCTT c.1860
F L I L D R M L P E L K K R G H K | V L L p.620
. . . . . . g.51647
TTTTCACAAATGACAAGCATGTTGGACATTTTGATGGATTACTGCCATCTCAGAGATTTC c.1920
F S Q M T S M L D I L M D Y C H L R D F p.640
. . . . . | 18 . g.52691
AACTTCAGCAGGCTTGATGGGTCCATGTCTTACTCAGAGAGAGAAAAAAAC | ATGCACAGC c.1980
N F S R L D G S M S Y S E R E K N | M H S p.660
. . . . . . g.52751
TTCAACACGGATCCAGAGGTGTTTATCTTCTTAGTGAGTACACGAGCTGGTGGCCTGGGC c.2040
F N T D P E V F I F L V S T R A G G L G p.680
. . . . | 19 . g.53890
ATTAATCTGACTGCAGCAGATACAGTTATCATTTATGATAGTGATTGG | AACCCCCAGTCG c.2100
I N L T A A D T V I I Y D S D W | N P Q S p.700
. . . . . . g.53950
GATCTTCAGGCCCAGGATAGATGTCATAGAATTGGTCAGACAAAGCCAGTTGTTGTTTAT c.2160
D L Q A Q D R C H R I G Q T K P V V V Y p.720
. . . . . . g.54010
CGCCTTGTTACAGCAAATACTATCGATCAGAAAATTGTGGAAAGAGCAGCTGCTAAAAGG c.2220
R L V T A N T I D Q K I V E R A A A K R p.740
. . | 20 . . . g.56075
AAACTGGAAAAGTTGATCATCCATAAAA | ATCATTTCAAAGGTGGTCAGTCTGGATTAAAT c.2280
K L E K L I I H K N | H F K G G Q S G L N p.760
. . . . . . g.56135
CTGTCTAAGAATTTCTTAGATCCTAAGGAATTAATGGAATTATTAAAATCTAGAGATTAT c.2340
L S K N F L D P K E L M E L L K S R D Y p.780
| 21 . . . . . . g.56273
GAAAG | GGAAATAAAAGGATCAAGAGAGAAGGTCATTAGTGATAAAGATCTAGAGTTGTTG c.2400
E R | E I K G S R E K V I S D K D L E L L p.800
. . | 22 . . . . g.60749
TTAGATCGAAGTGATCTTATTG | ATCAAATGAATGCTTCAGGACCAATTAAAGAGAAGATG c.2460
L D R S D L I D | Q M N A S G P I K E K M p.820
. . . . . g.60806
GGGATATTCAAGATATTAGAAAATTCTGAAGATTCCAGTCCTGAATGTTTGTTTTAA c.2517
G I F K I L E N S E D S S P E C L F X p.838
. . . . . . g.60866
agtggagctcaagaatagcttttaaaagttcttatttacatctagtgatttccctgtatt c.*60
. . . . . . g.60926
gggtttgaaatactgattgtccacttcaccttttttattatatcagttgacatgtaacta c.*120
. . . . . . g.60986
gtaccatgcgtacttaaatagatggtaattttctgagccttaccaagaacaaagaagtat c.*180
. . . . . . g.61046
ccatattaagtttagattttcagttaatttttgagactgagtagtattcttggatacagg c.*240
. . . . . . g.61106
ctgatgtgtacttaaccacttccagatttatacagtcttcctgtggaagtttagtaaatg c.*300
. . . . . . g.61166
tctttttccctcctttcttctagtaatgcagttcatgggctttaggtacttcagttatga c.*360
. . . . . . g.61226
agtaggcttttcatggggagagattgggattatgctctctgttgtttaagaaactgtttg c.*420
. . . . . g.61283
attttagagtctatttctatgagatagtttaccaaataaatgttccttataagatga c.*477
(downstream sequence)
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