Canonical Allele Identifier: CA2576844853

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974559-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974562del , CM000681.2:g.48974562del	GRCh38
NC_000019.9:g.49477819del , CM000681.1:g.49477819del	GRCh37
NC_000019.8:g.54169631del	NCBI36
NG_012923.1:g.23794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323798.8:c.1422+60del MANE Select	ENSP00000317904.3:n.1422+60del
ENST00000263276.6:c.1230+60del	ENSP00000263276.6:n.1230+60del
ENST00000323798.7:c.1422+60del	ENSP00000317904.3:n.1422+60del
ENST00000472004.5:n.177+60del
ENST00000496048.1:n.329+60del
NM_001161587.1:c.1230+60del	NP_001155059.1:n.1230+60del
NM_002103.4:c.1422+60del	NP_002094.2:n.1422+60del
NR_027763.1:n.1481+60del
NM_002103.5:c.1422+60del MANE Select	NP_002094.2:n.1422+60del
NM_001161587.2:c.1230+60del	NP_001155059.1:n.1230+60del
NR_027763.2:n.1437+60del