Canonical Allele Identifier: CA2586964396

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635972_171635973insG , CM000663.2:g.171635972_171635973insG GRCh38
NC_000001.10:g.171605112_171605113insG , CM000663.1:g.171605112_171605113insG GRCh37
NC_000001.9:g.169871735_169871736insG NCBI36
NG_008859.1:g.21661_21662insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1467_1468insC (MYOC) MANE Select ENSP00000037502.5:p.Asp490ArgfsTer9
ENST00000637303.1:c.235-2658_235-2657insG (MYOCOS) ENSP00000490048.1:n.235-2658_235-2657insG
ENST00000638471.1:c.*805_*806insC (MYOC) ENSP00000491206.1:n.*805_*806insC
ENST00000037502.10:c.1467_1468insC (MYOC) ENSP00000037502.5:p.Asp490ArgfsTer9
ENST00000614688.1:c.*431_*432insC (MYOC) ENSP00000478680.1:n.*431_*432insC
NM_000261.1:c.1467_1468insC (MYOC) NP_000252.1:p.Asp490ArgfsTer9
NM_000261.2:c.1467_1468insC (MYOC) MANE Select NP_000252.1:p.Asp490ArgfsTer9