Canonical Allele Identifier: CA2586290347

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974742-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974744del , CM000681.2:g.48974744del	GRCh38
NC_000019.9:g.49478001del , CM000681.1:g.49478001del	GRCh37
NC_000019.8:g.54169813del	NCBI36
NG_012923.1:g.23611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309-10del MANE Select	ENSP00000317904.3:n.1309-10del
ENST00000263276.6:c.1117-10del	ENSP00000263276.6:n.1117-10del
ENST00000323798.7:c.1309-10del	ENSP00000317904.3:n.1309-10del
ENST00000472004.5:n.64-10del
ENST00000496048.1:n.216-10del
NM_001161587.1:c.1117-10del	NP_001155059.1:n.1117-10del
NM_002103.4:c.1309-10del	NP_002094.2:n.1309-10del
NR_027763.1:n.1368-10del
NM_002103.5:c.1309-10del MANE Select	NP_002094.2:n.1309-10del
NM_001161587.2:c.1117-10del	NP_001155059.1:n.1117-10del
NR_027763.2:n.1324-10del