Canonical Allele Identifier: CA2518064731
Gene: MYOC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652487_171652488del , CM000663.2:g.171652487_171652488del GRCh38
NC_000001.10:g.171621627_171621628del , CM000663.1:g.171621627_171621628del GRCh37
NC_000001.9:g.169888250_169888251del NCBI36
NG_008859.1:g.5146_5147del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.124_125del MANE Select ENSP00000037502.5:p.Asp42ProfsTer16
ENST00000638471.1:c.124_125del ENSP00000491206.1:p.Asp42ProfsTer17
ENST00000037502.10:c.124_125del ENSP00000037502.5:p.Asp42ProfsTer16
ENST00000614688.1:c.124_125del ENSP00000478680.1:p.Asp42ProfsTer16
NM_000261.1:c.124_125del NP_000252.1:p.Asp42ProfsTer16
NM_000261.2:c.124_125del MANE Select NP_000252.1:p.Asp42ProfsTer16