Canonical Allele Identifier: CA2340166094

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974715_48974717delinsCAG , CM000681.2:g.48974715_48974717delinsCAG	GRCh38
NC_000019.9:g.49477972_49477974delinsCAG , CM000681.1:g.49477972_49477974delinsCAG	GRCh37
NC_000019.8:g.54169784_54169786delinsCAG	NCBI36
NG_012923.1:g.23637_23639delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1325_1327delinsCTG MANE Select	ENSP00000317904.3:p.Pro442=
ENST00000263276.6:c.1133_1135delinsCTG	ENSP00000263276.6:p.Pro378=
ENST00000323798.7:c.1325_1327delinsCTG	ENSP00000317904.3:p.Pro442=
ENST00000472004.5:n.80_82delinsCTG
ENST00000496048.1:n.232_234delinsCTG
NM_001161587.1:c.1133_1135delinsCTG	NP_001155059.1:p.Pro378=
NM_002103.4:c.1325_1327delinsCTG	NP_002094.2:p.Pro442=
NR_027763.1:n.1384_1386delinsCTG
NM_002103.5:c.1325_1327delinsCTG MANE Select	NP_002094.2:p.Pro442=
NM_001161587.2:c.1133_1135delinsCTG	NP_001155059.1:p.Pro378=
NR_027763.2:n.1340_1342delinsCTG