Canonical Allele Identifier: CA996641770

Gene: GYS1

Linked Data

• gnomAD v3: 19-48974596-C-CATTAAAAAA
• gnomAD v4: 19-48974596-C-CATTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974596_48974597insATTAAAAAA , CM000681.2:g.48974596_48974597insATTAAAAAA	GRCh38
NC_000019.9:g.49477853_49477854insATTAAAAAA , CM000681.1:g.49477853_49477854insATTAAAAAA	GRCh37
NC_000019.8:g.54169665_54169666insATTAAAAAA	NCBI36
NG_012923.1:g.23757_23758insTTTTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1422+23_1422+24insTTTTTTAAT MANE Select	ENSP00000317904.3:n.1422+23_1422+24insTTTTTTAAT
ENST00000263276.6:c.1230+23_1230+24insTTTTTTAAT	ENSP00000263276.6:n.1230+23_1230+24insTTTTTTAAT
ENST00000323798.7:c.1422+23_1422+24insTTTTTTAAT	ENSP00000317904.3:n.1422+23_1422+24insTTTTTTAAT
ENST00000472004.5:n.177+23_177+24insTTTTTTAAT
ENST00000496048.1:n.329+23_329+24insTTTTTTAAT
NM_001161587.1:c.1230+23_1230+24insTTTTTTAAT	NP_001155059.1:n.1230+23_1230+24insTTTTTTAAT
NM_002103.4:c.1422+23_1422+24insTTTTTTAAT	NP_002094.2:n.1422+23_1422+24insTTTTTTAAT
NR_027763.1:n.1481+23_1481+24insTTTTTTAAT
NM_002103.5:c.1422+23_1422+24insTTTTTTAAT MANE Select	NP_002094.2:n.1422+23_1422+24insTTTTTTAAT
NM_001161587.2:c.1230+23_1230+24insTTTTTTAAT	NP_001155059.1:n.1230+23_1230+24insTTTTTTAAT
NR_027763.2:n.1437+23_1437+24insTTTTTTAAT