Canonical Allele Identifier: CA1488821442

Gene: MYOZ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119185943_119185947delinsGTTTT , CM000666.2:g.119185943_119185947delinsGTTTT	GRCh38
NC_000004.11:g.120107098_120107102delinsGTTTT , CM000666.1:g.120107098_120107102delinsGTTTT	GRCh37
NC_000004.10:g.120326546_120326550delinsGTTTT	NCBI36
NG_029747.1:g.55160_55164delinsGTTTT , LRG_396:g.55160_55164delinsGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.561-23_561-19delinsGTTTT MANE Select	ENSP00000306997.6:n.561-23_561-19delinsGTTTT
ENST00000307128.5:c.561-23_561-19delinsGTTTT	ENSP00000306997.5:n.561-23_561-19delinsGTTTT
NM_016599.4:c.561-23_561-19delinsGTTTT , LRG_396t1:c.561-23_561-19delinsGTTTT	NP_057683.1:n.561-23_561-19delinsGTTTT
NM_016599.5:c.561-23_561-19delinsGTTTT MANE Select	NP_057683.1:n.561-23_561-19delinsGTTTT