Canonical Allele Identifier: CA2814673959

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974621_48974626del , CM000681.2:g.48974621_48974626del	GRCh38
NC_000019.9:g.49477878_49477883del , CM000681.1:g.49477878_49477883del	GRCh37
NC_000019.8:g.54169690_54169695del	NCBI36
NG_012923.1:g.23733_23738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1421_1422+4del
ENST00000263276.6:c.1229_1230+4del
ENST00000323798.7:c.1421_1422+4del
ENST00000472004.5:n.176_177+4del
ENST00000496048.1:n.328_329+4del
NM_001161587.1:c.1229_1230+4del
NM_002103.4:c.1421_1422+4del
NR_027763.1:n.1480_1481+4del
NM_002103.5:c.1421_1422+4del
NM_001161587.2:c.1229_1230+4del
NR_027763.2:n.1436_1437+4del