Canonical Allele Identifier: CA1147984684

Gene: MYOC MYOCOS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636083_171636084delinsAA , CM000663.2:g.171636083_171636084delinsAA	GRCh38
NC_000001.10:g.171605223_171605224delinsAA , CM000663.1:g.171605223_171605224delinsAA	GRCh37
NC_000001.9:g.169871846_169871847delinsAA	NCBI36
NG_008859.1:g.21550_21551delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1356_1357delinsTT (MYOC) MANE Select	ENSP00000037502.5:p.Ala452=
ENST00000637303.1:c.235-2547_235-2546delinsAA (MYOCOS)	ENSP00000490048.1:n.235-2547_235-2546delinsAA
ENST00000638471.1:c.*694_*695delinsTT (MYOC)	ENSP00000491206.1:n.*694_*695delinsTT
ENST00000037502.10:c.1356_1357delinsTT (MYOC)	ENSP00000037502.5:p.Ala452=
ENST00000614688.1:c.*320_*321delinsTT (MYOC)	ENSP00000478680.1:n.*320_*321delinsTT
NM_000261.1:c.1356_1357delinsTT (MYOC)	NP_000252.1:p.Ala452=
NM_000261.2:c.1356_1357delinsTT (MYOC) MANE Select	NP_000252.1:p.Ala452=