Canonical Allele Identifier: CA2814673957

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974505_48974506del , CM000681.2:g.48974505_48974506del	GRCh38
NC_000019.9:g.49477762_49477763del , CM000681.1:g.49477762_49477763del	GRCh37
NC_000019.8:g.54169574_54169575del	NCBI36
NG_012923.1:g.23849_23850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1422+115_1422+116del MANE Select	ENSP00000317904.3:n.1422+115_1422+116del
ENST00000263276.6:c.1230+115_1230+116del	ENSP00000263276.6:n.1230+115_1230+116del
ENST00000323798.7:c.1422+115_1422+116del	ENSP00000317904.3:n.1422+115_1422+116del
ENST00000472004.5:n.177+115_177+116del
ENST00000496048.1:n.329+115_329+116del
NM_001161587.1:c.1230+115_1230+116del	NP_001155059.1:n.1230+115_1230+116del
NM_002103.4:c.1422+115_1422+116del	NP_002094.2:n.1422+115_1422+116del
NR_027763.1:n.1481+115_1481+116del
NM_002103.5:c.1422+115_1422+116del MANE Select	NP_002094.2:n.1422+115_1422+116del
NM_001161587.2:c.1230+115_1230+116del	NP_001155059.1:n.1230+115_1230+116del
NR_027763.2:n.1437+115_1437+116del