Canonical Allele Identifier: CA2746620466

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636741dup , CM000663.2:g.171636741dup GRCh38
NC_000001.10:g.171605881dup , CM000663.1:g.171605881dup GRCh37
NC_000001.9:g.169872504dup NCBI36
NG_008859.1:g.20893dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.731-32dup (MYOC) MANE Select ENSP00000037502.5:n.731-32dup
ENST00000637303.1:c.235-1889dup (MYOCOS) ENSP00000490048.1:n.235-1889dup
ENST00000638471.1:c.*69-32dup (MYOC) ENSP00000491206.1:n.*69-32dup
ENST00000037502.10:c.731-32dup (MYOC) ENSP00000037502.5:n.731-32dup
ENST00000614688.1:c.731-32dup (MYOC) ENSP00000478680.1:n.731-32dup
NM_000261.1:c.731-32dup (MYOC) NP_000252.1:n.731-32dup
NM_000261.2:c.731-32dup (MYOC) MANE Select NP_000252.1:n.731-32dup