Canonical Allele Identifier: CA2340166102

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974726_48974727delinsGA , CM000681.2:g.48974726_48974727delinsGA	GRCh38
NC_000019.9:g.49477983_49477984delinsGA , CM000681.1:g.49477983_49477984delinsGA	GRCh37
NC_000019.8:g.54169795_54169796delinsGA	NCBI36
NG_012923.1:g.23627_23628delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1315_1316delinsTC MANE Select	ENSP00000317904.3:p.Ser439=
ENST00000263276.6:c.1123_1124delinsTC	ENSP00000263276.6:p.Ser375=
ENST00000323798.7:c.1315_1316delinsTC	ENSP00000317904.3:p.Ser439=
ENST00000472004.5:n.70_71delinsTC
ENST00000496048.1:n.222_223delinsTC
NM_001161587.1:c.1123_1124delinsTC	NP_001155059.1:p.Ser375=
NM_002103.4:c.1315_1316delinsTC	NP_002094.2:p.Ser439=
NR_027763.1:n.1374_1375delinsTC
NM_002103.5:c.1315_1316delinsTC MANE Select	NP_002094.2:p.Ser439=
NM_001161587.2:c.1123_1124delinsTC	NP_001155059.1:p.Ser375=
NR_027763.2:n.1330_1331delinsTC