Canonical Allele Identifier: CA2649106002

Gene: MYOC MYOCOS

Linked Data

• gnomAD v4: 1-171636658-TCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636662_171636664del , CM000663.2:g.171636662_171636664del	GRCh38
NC_000001.10:g.171605802_171605804del , CM000663.1:g.171605802_171605804del	GRCh37
NC_000001.9:g.169872425_169872427del	NCBI36
NG_008859.1:g.20973_20975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.779_781del (MYOC) MANE Select	ENSP00000037502.5:p.Ala260del
ENST00000637303.1:c.235-1968_235-1966del (MYOCOS)	ENSP00000490048.1:n.235-1968_235-1966del
ENST00000638471.1:c.*117_*119del (MYOC)	ENSP00000491206.1:n.*117_*119del
ENST00000037502.10:c.779_781del (MYOC)	ENSP00000037502.5:p.Ala260del
ENST00000614688.1:c.779_781del (MYOC)	ENSP00000478680.1:p.Ala260del
NM_000261.1:c.779_781del (MYOC)	NP_000252.1:p.Ala260del
NM_000261.2:c.779_781del (MYOC) MANE Select	NP_000252.1:p.Ala260del