Canonical Allele Identifier: CA2586290343

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974734-C-CCCCAGCCCTGACCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974734_48974735insCCCAGCCCTGACCAAA , CM000681.2:g.48974734_48974735insCCCAGCCCTGACCAAA	GRCh38
NC_000019.9:g.49477991_49477992insCCCAGCCCTGACCAAA , CM000681.1:g.49477991_49477992insCCCAGCCCTGACCAAA	GRCh37
NC_000019.8:g.54169803_54169804insCCCAGCCCTGACCAAA	NCBI36
NG_012923.1:g.23619_23620insTTTGGTCAGGGCTGGG

Transcript Alleles

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