Canonical Allele Identifier: CA1207023302
Gene: MYOC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652659_171652660delinsAG , CM000663.2:g.171652659_171652660delinsAG GRCh38
NC_000001.10:g.171621799_171621800delinsAG , CM000663.1:g.171621799_171621800delinsAG GRCh37
NC_000001.9:g.169888422_169888423delinsAG NCBI36
NG_008859.1:g.4974_4975delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.-49_-48delinsCT MANE Select ENSP00000037502.5:n.-49_-48delinsCT
ENST00000037502.10:c.-49_-48delinsCT ENSP00000037502.5:n.-49_-48delinsCT
NM_000261.2:c.-49_-48delinsCT MANE Select NP_000252.1:n.-49_-48delinsCT