Canonical Allele Identifier: CA2576844864

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974598del , CM000681.2:g.48974598del	GRCh38
NC_000019.9:g.49477855del , CM000681.1:g.49477855del	GRCh37
NC_000019.8:g.54169667del	NCBI36
NG_012923.1:g.23756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1422+22del MANE Select	ENSP00000317904.3:n.1422+22del
ENST00000263276.6:c.1230+22del	ENSP00000263276.6:n.1230+22del
ENST00000323798.7:c.1422+22del	ENSP00000317904.3:n.1422+22del
ENST00000472004.5:n.177+22del
ENST00000496048.1:n.329+22del
NM_001161587.1:c.1230+22del	NP_001155059.1:n.1230+22del
NM_002103.4:c.1422+22del	NP_002094.2:n.1422+22del
NR_027763.1:n.1481+22del
NM_002103.5:c.1422+22del MANE Select	NP_002094.2:n.1422+22del
NM_001161587.2:c.1230+22del	NP_001155059.1:n.1230+22del
NR_027763.2:n.1437+22del