Canonical Allele Identifier: CA2340166115

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974741_48974742delinsAG , CM000681.2:g.48974741_48974742delinsAG	GRCh38
NC_000019.9:g.49477998_49477999delinsAG , CM000681.1:g.49477998_49477999delinsAG	GRCh37
NC_000019.8:g.54169810_54169811delinsAG	NCBI36
NG_012923.1:g.23612_23613delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309-9_1309-8delinsCT MANE Select	ENSP00000317904.3:n.1309-9_1309-8delinsCT
ENST00000263276.6:c.1117-9_1117-8delinsCT	ENSP00000263276.6:n.1117-9_1117-8delinsCT
ENST00000323798.7:c.1309-9_1309-8delinsCT	ENSP00000317904.3:n.1309-9_1309-8delinsCT
ENST00000472004.5:n.64-9_64-8delinsCT
ENST00000496048.1:n.216-9_216-8delinsCT
NM_001161587.1:c.1117-9_1117-8delinsCT	NP_001155059.1:n.1117-9_1117-8delinsCT
NM_002103.4:c.1309-9_1309-8delinsCT	NP_002094.2:n.1309-9_1309-8delinsCT
NR_027763.1:n.1368-9_1368-8delinsCT
NM_002103.5:c.1309-9_1309-8delinsCT MANE Select	NP_002094.2:n.1309-9_1309-8delinsCT
NM_001161587.2:c.1117-9_1117-8delinsCT	NP_001155059.1:n.1117-9_1117-8delinsCT
NR_027763.2:n.1324-9_1324-8delinsCT