Canonical Allele Identifier: CA2658569

Gene: GYG1

Linked Data

• ClinVar Variation Id: 3029410
• ClinVar RCV Id: RCV003896511
• dbSNP Id: rs765704284
• ExAC: 3:148727048 A / AT
• gnomAD v2: 3-148727048-A-AT
• gnomAD v4: 3-149009261-A-AT
• MyVariant Identifiers: chr3:g.148727048_148727049insT (hg19) ; chr3:g.149009261_149009262insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009268dup , CM000665.2:g.149009268dup	GRCh38
NC_000003.11:g.148727055dup , CM000665.1:g.148727055dup	GRCh37
NC_000003.10:g.150209745dup	NCBI36
NG_027677.1:g.22861dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.482-8dup MANE Select	ENSP00000340736.4:n.482-8dup
ENST00000296048.10:c.482-8dup	ENSP00000296048.6:n.482-8dup
ENST00000345003.8:c.482-8dup	ENSP00000340736.4:n.482-8dup
ENST00000461191.1:c.470-8dup	ENSP00000420247.1:n.470-8dup
ENST00000469873.1:n.388dup
ENST00000479119.1:n.98-8dup
ENST00000483267.5:c.469+12376dup	ENSP00000419499.1:n.469+12376dup
ENST00000484197.5:c.482-8dup	ENSP00000420683.1:n.482-8dup
ENST00000497528.5:n.121-8dup
ENST00000627418.2:c.469+12376dup	ENSP00000486061.1:n.469+12376dup
NM_001184720.1:c.482-8dup	NP_001171649.1:n.482-8dup
NM_001184721.1:c.482-8dup	NP_001171650.1:n.482-8dup
NM_004130.3:c.482-8dup	NP_004121.2:n.482-8dup
XM_017006275.1:c.305-8dup	XP_016861764.1:n.305-8dup
XM_017006276.1:c.20-8dup	XP_016861765.1:n.20-8dup
NM_004130.4:c.482-8dup MANE Select	NP_004121.2:n.482-8dup
NM_001184720.2:c.482-8dup	NP_001171649.1:n.482-8dup
NM_001184721.2:c.482-8dup	NP_001171650.1:n.482-8dup