Canonical Allele Identifier: CA1207016912

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636617_171636618delinsTG , CM000663.2:g.171636617_171636618delinsTG GRCh38
NC_000001.10:g.171605757_171605758delinsTG , CM000663.1:g.171605757_171605758delinsTG GRCh37
NC_000001.9:g.169872380_169872381delinsTG NCBI36
NG_008859.1:g.21016_21017delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.822_823delinsCA (MYOC) MANE Select ENSP00000037502.5:p.Pro274=
ENST00000637303.1:c.235-2013_235-2012delinsTG (MYOCOS) ENSP00000490048.1:n.235-2013_235-2012delinsTG
ENST00000638471.1:c.*160_*161delinsCA (MYOC) ENSP00000491206.1:n.*160_*161delinsCA
ENST00000037502.10:c.822_823delinsCA (MYOC) ENSP00000037502.5:p.Pro274=
ENST00000614688.1:c.822_823delinsCA (MYOC) ENSP00000478680.1:p.Pro274=
NM_000261.1:c.822_823delinsCA (MYOC) NP_000252.1:p.Pro274=
NM_000261.2:c.822_823delinsCA (MYOC) MANE Select NP_000252.1:p.Pro274=