Canonical Allele Identifier: CA2574087896

Gene: MYOC MYOCOS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636181_171636182insCTGGATGT , CM000663.2:g.171636181_171636182insCTGGATGT	GRCh38
NC_000001.10:g.171605321_171605322insCTGGATGT , CM000663.1:g.171605321_171605322insCTGGATGT	GRCh37
NC_000001.9:g.169871944_169871945insCTGGATGT	NCBI36
NG_008859.1:g.21458_21459insAGACATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1264_1265insAGACATCC (MYOC) MANE Select	ENSP00000037502.5:p.Arg422GlnfsTer?
ENST00000637303.1:c.235-2449_235-2448insCTGGATGT (MYOCOS)	ENSP00000490048.1:n.235-2449_235-2448insCTGGATGT
ENST00000638471.1:c.*602_*603insAGACATCC (MYOC)	ENSP00000491206.1:n.*602_*603insAGACATCC
ENST00000037502.10:c.1264_1265insAGACATCC (MYOC)	ENSP00000037502.5:p.Arg422GlnfsTer?
ENST00000614688.1:c.*228_*229insAGACATCC (MYOC)	ENSP00000478680.1:n.*228_*229insAGACATCC
NM_000261.1:c.1264_1265insAGACATCC (MYOC)	NP_000252.1:p.Arg422GlnfsTer?
NM_000261.2:c.1264_1265insAGACATCC (MYOC) MANE Select	NP_000252.1:p.Arg422GlnfsTer?