Canonical Allele Identifier: CA546924866

Gene: GYG1

Linked Data

• dbSNP Id: rs1339962848
• gnomAD v2: 3-148711925-TAA-T
• gnomAD v4: 3-148994138-TAA-T
• MyVariant Identifiers: chr3:g.148711926_148711927del (hg19) ; chr3:g.148994139_148994140del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994139_148994140del , CM000665.2:g.148994139_148994140del	GRCh38
NC_000003.11:g.148711926_148711927del , CM000665.1:g.148711926_148711927del	GRCh37
NC_000003.10:g.150194616_150194617del	NCBI36
NG_027677.1:g.7732_7733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.8-3_8-2del MANE Select	ENSP00000340736.4:n.8-3_8-2del
ENST00000296048.10:c.8-3_8-2del	ENSP00000296048.6:n.8-3_8-2del
ENST00000345003.8:c.8-3_8-2del	ENSP00000340736.4:n.8-3_8-2del
ENST00000461191.1:c.8-3_8-2del	ENSP00000420247.1:n.8-3_8-2del
ENST00000473005.1:c.-131-3_-131-2del	ENSP00000417671.1:n.-131-3_-131-2del
ENST00000478067.1:n.109-3_109-2del
ENST00000483267.5:c.8-3_8-2del	ENSP00000419499.1:n.8-3_8-2del
ENST00000484197.5:c.8-3_8-2del	ENSP00000420683.1:n.8-3_8-2del
ENST00000492285.6:c.-131-3_-131-2del	ENSP00000418297.2:n.-131-3_-131-2del
ENST00000627418.2:c.8-3_8-2del	ENSP00000486061.1:n.8-3_8-2del
NM_001184720.1:c.8-3_8-2del	NP_001171649.1:n.8-3_8-2del
NM_001184721.1:c.8-3_8-2del	NP_001171650.1:n.8-3_8-2del
NM_004130.3:c.8-3_8-2del	NP_004121.2:n.8-3_8-2del
XM_017006275.1:c.-34-2163_-34-2162del	XP_016861764.1:n.-34-2163_-34-2162del
NM_004130.4:c.8-3_8-2del MANE Select	NP_004121.2:n.8-3_8-2del
NM_001184720.2:c.8-3_8-2del	NP_001171649.1:n.8-3_8-2del
NM_001184721.2:c.8-3_8-2del	NP_001171650.1:n.8-3_8-2del