Canonical Allele Identifier: CA1207016902

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636595_171636596delinsTG , CM000663.2:g.171636595_171636596delinsTG GRCh38
NC_000001.10:g.171605735_171605736delinsTG , CM000663.1:g.171605735_171605736delinsTG GRCh37
NC_000001.9:g.169872358_169872359delinsTG NCBI36
NG_008859.1:g.21038_21039delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.844_845delinsCA (MYOC) MANE Select ENSP00000037502.5:p.Gln282=
ENST00000637303.1:c.235-2035_235-2034delinsTG (MYOCOS) ENSP00000490048.1:n.235-2035_235-2034delinsTG
ENST00000638471.1:c.*182_*183delinsCA (MYOC) ENSP00000491206.1:n.*182_*183delinsCA
ENST00000037502.10:c.844_845delinsCA (MYOC) ENSP00000037502.5:p.Gln282=
ENST00000614688.1:c.844_845delinsCA (MYOC) ENSP00000478680.1:p.Gln282=
NM_000261.1:c.844_845delinsCA (MYOC) NP_000252.1:p.Gln282=
NM_000261.2:c.844_845delinsCA (MYOC) MANE Select NP_000252.1:p.Gln282=