Canonical Allele Identifier: CA1207023078
Gene: MYOC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171651974_171651976delinsCTG , CM000663.2:g.171651974_171651976delinsCTG GRCh38
NC_000001.10:g.171621114_171621116delinsCTG , CM000663.1:g.171621114_171621116delinsCTG GRCh37
NC_000001.9:g.169887737_169887739delinsCTG NCBI36
NG_008859.1:g.5658_5660delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.604+32_604+34delinsCAG MANE Select ENSP00000037502.5:n.604+32_604+34delinsCAG
ENST00000638471.1:c.130+506_130+508delinsCAG ENSP00000491206.1:n.130+506_130+508delinsCAG
ENST00000037502.10:c.604+32_604+34delinsCAG ENSP00000037502.5:n.604+32_604+34delinsCAG
ENST00000614688.1:c.604+32_604+34delinsCAG ENSP00000478680.1:n.604+32_604+34delinsCAG
NM_000261.1:c.604+32_604+34delinsCAG NP_000252.1:n.604+32_604+34delinsCAG
NM_000261.2:c.604+32_604+34delinsCAG MANE Select NP_000252.1:n.604+32_604+34delinsCAG