Canonical Allele Identifier: CA2649105994
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171635984-GCTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635990_171635992del , CM000663.2:g.171635990_171635992del GRCh38
NC_000001.10:g.171605130_171605132del , CM000663.1:g.171605130_171605132del GRCh37
NC_000001.9:g.169871753_169871755del NCBI36
NG_008859.1:g.21647_21649del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1453_1455del (MYOC) MANE Select ENSP00000037502.5:p.Lys485del
ENST00000637303.1:c.235-2640_235-2638del (MYOCOS) ENSP00000490048.1:n.235-2640_235-2638del
ENST00000638471.1:c.*791_*793del (MYOC) ENSP00000491206.1:n.*791_*793del
ENST00000037502.10:c.1453_1455del (MYOC) ENSP00000037502.5:p.Lys485del
ENST00000614688.1:c.*417_*419del (MYOC) ENSP00000478680.1:n.*417_*419del
NM_000261.1:c.1453_1455del (MYOC) NP_000252.1:p.Lys485del
NM_000261.2:c.1453_1455del (MYOC) MANE Select NP_000252.1:p.Lys485del
Search 100 bp 5'
Search 100 bp 3'