Canonical Allele Identifier: CA1207016739

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636082_171636083delinsTA , CM000663.2:g.171636082_171636083delinsTA GRCh38
NC_000001.10:g.171605222_171605223delinsTA , CM000663.1:g.171605222_171605223delinsTA GRCh37
NC_000001.9:g.169871845_169871846delinsTA NCBI36
NG_008859.1:g.21551_21552delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1357_1358delinsTA (MYOC) MANE Select ENSP00000037502.5:p.Tyr453=
ENST00000637303.1:c.235-2548_235-2547delinsTA (MYOCOS) ENSP00000490048.1:n.235-2548_235-2547delinsTA
ENST00000638471.1:c.*695_*696delinsTA (MYOC) ENSP00000491206.1:n.*695_*696delinsTA
ENST00000037502.10:c.1357_1358delinsTA (MYOC) ENSP00000037502.5:p.Tyr453=
ENST00000614688.1:c.*321_*322delinsTA (MYOC) ENSP00000478680.1:n.*321_*322delinsTA
NM_000261.1:c.1357_1358delinsTA (MYOC) NP_000252.1:p.Tyr453=
NM_000261.2:c.1357_1358delinsTA (MYOC) MANE Select NP_000252.1:p.Tyr453=