Canonical Allele Identifier: CA1207016905

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636602_171636603delinsAG , CM000663.2:g.171636602_171636603delinsAG GRCh38
NC_000001.10:g.171605742_171605743delinsAG , CM000663.1:g.171605742_171605743delinsAG GRCh37
NC_000001.9:g.169872365_169872366delinsAG NCBI36
NG_008859.1:g.21031_21032delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.837_838delinsCT (MYOC) MANE Select ENSP00000037502.5:p.Pro279=
ENST00000637303.1:c.235-2028_235-2027delinsAG (MYOCOS) ENSP00000490048.1:n.235-2028_235-2027delinsAG
ENST00000638471.1:c.*175_*176delinsCT (MYOC) ENSP00000491206.1:n.*175_*176delinsCT
ENST00000037502.10:c.837_838delinsCT (MYOC) ENSP00000037502.5:p.Pro279=
ENST00000614688.1:c.837_838delinsCT (MYOC) ENSP00000478680.1:p.Pro279=
NM_000261.1:c.837_838delinsCT (MYOC) NP_000252.1:p.Pro279=
NM_000261.2:c.837_838delinsCT (MYOC) MANE Select NP_000252.1:p.Pro279=