Canonical Allele Identifier: CA309387076

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477973_49477974insAG (hg19) ; chr19:g.48974716_48974717insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974716_48974717insAG , CM000681.2:g.48974716_48974717insAG	GRCh38
NC_000019.9:g.49477973_49477974insAG , CM000681.1:g.49477973_49477974insAG	GRCh37
NC_000019.8:g.54169785_54169786insAG	NCBI36
NG_012923.1:g.23637_23638insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1325_1326insCT MANE Select	ENSP00000317904.3:p.Val443LeufsTer16
ENST00000263276.6:c.1133_1134insCT	ENSP00000263276.6:p.Val379LeufsTer16
ENST00000323798.7:c.1325_1326insCT	ENSP00000317904.3:p.Val443LeufsTer16
ENST00000472004.5:n.80_81insCT
ENST00000496048.1:n.232_233insCT
NM_001161587.1:c.1133_1134insCT	NP_001155059.1:p.Val379LeufsTer16
NM_002103.4:c.1325_1326insCT	NP_002094.2:p.Val443LeufsTer16
NR_027763.1:n.1384_1385insCT
NM_002103.5:c.1325_1326insCT MANE Select	NP_002094.2:p.Val443LeufsTer16
NM_001161587.2:c.1133_1134insCT	NP_001155059.1:p.Val379LeufsTer16
NR_027763.2:n.1340_1341insCT