Canonical Allele Identifier: CA1207023152
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1653370190
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652187_171652190del , CM000663.2:g.171652187_171652190del GRCh38
NC_000001.10:g.171621327_171621330del , CM000663.1:g.171621327_171621330del GRCh37
NC_000001.9:g.169887950_169887953del NCBI36
NG_008859.1:g.5445_5448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.423_426del MANE Select ENSP00000037502.5:p.Tyr142AlafsTer17
ENST00000638471.1:c.130+293_130+296del ENSP00000491206.1:n.130+293_130+296del
ENST00000037502.10:c.423_426del ENSP00000037502.5:p.Tyr142AlafsTer17
ENST00000614688.1:c.423_426del ENSP00000478680.1:p.Tyr142AlafsTer17
NM_000261.1:c.423_426del NP_000252.1:p.Tyr142AlafsTer17
NM_000261.2:c.423_426del MANE Select NP_000252.1:p.Tyr142AlafsTer17
Search 100 bp 5'
Search 100 bp 3'