Allele Registry

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ClinGen Allele Registry

Canonical Allele Identifier: CA1139770890

Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 2442263

ClinVar RCV Id: RCV003148592

gnomAD v4: 1-171652236-GC-G

ERepo: CA1139770890/MONDO:0007665/019

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652238del , CM000663.2:g.171652238del	GRCh38
NC_000001.10:g.171621378del , CM000663.1:g.171621378del	GRCh37
NC_000001.9:g.169888001del	NCBI36
NG_008859.1:g.5397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.375del MANE Select	ENSP00000037502.5:p.Arg125SerfsTer?
ENST00000638471.1:c.130+245del	ENSP00000491206.1:n.130+245del
ENST00000037502.10:c.375del	ENSP00000037502.5:p.Arg125SerfsTer?
ENST00000614688.1:c.375del	ENSP00000478680.1:p.Arg125SerfsTer?
NM_000261.1:c.375del	NP_000252.1:p.Arg125SerfsTer?
NM_000261.2:c.375del MANE Select	NP_000252.1:p.Arg125SerfsTer?