(used for variant description)
(last modified February 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001163560.2 in the MEIOB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering MEIOB transcript NM_001163560.2.
(upstream sequence)
. g.5015
gctgaggacggggcg c.-181
. . . . . . g.5075
gggcctcgcgctaacggtcgcgcggccgtcgcacctgcacgaggctgtggcccgagcgtc c.-121
. . . . . . g.5135
ctgtggagaagccgcgaagcgcgggcgacccgggggtcgggcgggccaggtccgcgaggc c.-61
. . . . . . | 02 g.9003
cgcggcggcagctgtgcaggcccggggagcagccggccgggcgagcctcgg | attaaaaaa c.-1
. . . . . . g.9063
ATGGCAAACTCCTTTGCAGCGAGGATTTTCACTACCCTTTCAGATCTGCAGACAAATATG c.60
M A N S F A A R I F T T L S D L Q T N M p.20
| 03 . . . . . g.11394
GCTAATCTG | AAAGTTATCGGTATAGTTATTGGGAAAACAGATGTCAAAGGCTTTCCAGAC c.120
A N L | K V I G I V I G K T D V K G F P D p.40
| 04. . . . . . g.15115
AGAAAAA | ATATTGGATCAGAAAGGTACACTTTCAGCTTCACCATTCGGGATTCACCAGCA c.180
R K N | I G S E R Y T F S F T I R D S P A p.60
. . . . . . g.15175
CATTTTGTAAATGCAGCTTCCTGGGGCAATGAAGATTACATCAAGTCTCTTTCTGACAGC c.240
H F V N A A S W G N E D Y I K S L S D S p.80
. | 05 . . . . g.16744
TTTAGGGTTGGTGACTGTG | TGATAATTGAAAATCCTCTGATCCAAAGAAAGGAAATAGAA c.300
F R V G D C V | I I E N P L I Q R K E I E p.100
. . . | 06 . . . g.19276
AGAGAAGAAAAATTCAGCCCTGCAACTCCTAG | CAACTGTAAACTGTTGCTCAGTGAGAAT c.360
R E E K F S P A T P S | N C K L L L S E N p.120
. . . . . . g.19336
CACTCAACAGTAAAAGTTTGTTCCAGTTATGAAGTGGACACAAAGTTACTTTCTTTGATA c.420
H S T V K V C S S Y E V D T K L L S L I p.140
. . . . . . g.19396
CATTTACCTGTTAAAGAGTCTCATGATTATTATTCACTGGGTGACATTGTTGCAAATGGA c.480
H L P V K E S H D Y Y S L G D I V A N G p.160
. . . . | 07 . g.22990
CACAGTCTTAATGGGAGGATTATTAACGTGCTTGCAGCTGTGAAATCG | GTTGGAGAGCCA c.540
H S L N G R I I N V L A A V K S | V G E P p.180
. . . . . . g.23050
AAATACTTTACAACTTCAGACCGGAGAAAAGGCCAGAGGTGTGAAGTTAGACTCTATGAT c.600
K Y F T T S D R R K G Q R C E V R L Y D p.200
. . | 08 . . . g.23938
GAAACAGAGTCGTCTTTTGCGATGACATG | TTGGGATAATGAATCCATTCTACTTGCACAG c.660
E T E S S F A M T C | W D N E S I L L A Q p.220
. . | 09 . . . . g.24082
AGCTGGATGCCACGAGAAACAG | TAATATTTGCCTCAGATGTAAGAATAAATTTTGACAAA c.720
S W M P R E T V | I F A S D V R I N F D K p.240
. . . . . | 10 g.32217
TTTCGGAACTGCATGACAGCAACTGTAATCTCAAAAACCATTATTACAACTAATCCAG | AT c.780
F R N C M T A T V I S K T I I T T N P D | p.260
. . . . . . g.32277
ATACCAGAAGCTAACATTCTGCTGAATTTTATACGAGAAAATAAAGAAACGAATGTTCTG c.840
I P E A N I L L N F I R E N K E T N V L p.280
. . . . | 11 . . g.35225
GATGATGAAATTGACAGTTATTTCAAAGAATCCATAAATT | TAAGTACAATAGTTGATGTC c.900
D D E I D S Y F K E S I N L | S T I V D V p.300
. . . . . . g.35285
TACACAGTTGAACAATTAAAGGGAAAAGCTTTGAAGAATGAAGGAAAAGCTGATCCTTCC c.960
Y T V E Q L K G K A L K N E G K A D P S p.320
. . . . . . g.35345
TATGGCATCCTTTATGCCTACATTTCCACACTCAACATTGATGATGAAACTACAAAAGTA c.1020
Y G I L Y A Y I S T L N I D D E T T K V p.340
. | 12 . . . . . g.37786
GTTCGAAATAGATG | TTCCAGCTGTGGTTATATTGTAAATGAAGCATCTAACATGTGCACA c.1080
V R N R C | S S C G Y I V N E A S N M C T p.360
. . . . . . g.37846
ACTTGCAACAAAAACTCCTTGGACTTTAAATCTGTCTTTCTCAGTTTCCATGTGCTGATT c.1140
T C N K N S L D F K S V F L S F H V L I p.380
. . . . . . g.37906
GATCTGACTGATCACACAGGCACCCTTCATTCCTGTAGTCTCACAGGAAGTGTTGCTGAG c.1200
D L T D H T G T L H S C S L T G S V A E p.400
. | 13 . . . . g.39350
GAGACTTTGGGCTGCACG | GTACATGAGTTTCTTGCAATGACAGATGAACAGAAAACAGCA c.1260
E T L G C T | V H E F L A M T D E Q K T A p.420
. . . . | 14 . . g.42827
TTAAAGTGGCAATTTCTCTTGGAAAGAAGCAAAATTTATTTAAAA | TTCGTTCTATCACAC c.1320
L K W Q F L L E R S K I Y L K | F V L S H p.440
. . . . . . g.42887
AGAGCAAGGAGTGGATTGAAAATTAGTGTACTCTCGTGCAAGCTTGCAGATCCTACTGAG c.1380
R A R S G L K I S V L S C K L A D P T E p.460
. . . g.42923
GCAAGCAGAAACTTGTCTGGACAAAAACATGTTTAA c.1416
A S R N L S G Q K H V X p.471
. . . . . . g.42983
aacggtctatcattttgaactctggaaaagtataagagttttaactccctttaaaatgga c.*60
. . . . . . g.43043
atattaatttgaaaattatggggaaaattgcattttgtttacatgtggtgaacatgtttc c.*120
. . . . . . g.43103
tagaaattgttatggtggaggtggtctgggtgagtctgaaggcctctctcatctgacctc c.*180
. . . . . . g.43163
ccttcttagaaggcctcctactgtctttgccttgtctcctcccaagttggaaaatgttta c.*240
. . . g.43196
catgaattaataaacagatttaatcttctacag c.*273
(downstream sequence)
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