Canonical Allele Identifier: CA1207016858

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636477_171636478delinsTG , CM000663.2:g.171636477_171636478delinsTG GRCh38
NC_000001.10:g.171605617_171605618delinsTG , CM000663.1:g.171605617_171605618delinsTG GRCh37
NC_000001.9:g.169872240_169872241delinsTG NCBI36
NG_008859.1:g.21156_21157delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.962_963delinsCA (MYOC) MANE Select ENSP00000037502.5:p.Pro321=
ENST00000637303.1:c.235-2153_235-2152delinsTG (MYOCOS) ENSP00000490048.1:n.235-2153_235-2152delinsTG
ENST00000638471.1:c.*300_*301delinsCA (MYOC) ENSP00000491206.1:n.*300_*301delinsCA
ENST00000037502.10:c.962_963delinsCA (MYOC) ENSP00000037502.5:p.Pro321=
ENST00000614688.1:c.962_963delinsCA (MYOC) ENSP00000478680.1:p.Pro321=
NM_000261.1:c.962_963delinsCA (MYOC) NP_000252.1:p.Pro321=
NM_000261.2:c.962_963delinsCA (MYOC) MANE Select NP_000252.1:p.Pro321=