Canonical Allele Identifier: CA1054781684

Gene: GYG1

Linked Data

• dbSNP Id: rs1713581022
• gnomAD v3: 3-149009264-TTTTTC-T
• gnomAD v4: 3-149009264-TTTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009269_149009273del , CM000665.2:g.149009269_149009273del	GRCh38
NC_000003.11:g.148727056_148727060del , CM000665.1:g.148727056_148727060del	GRCh37
NC_000003.10:g.150209746_150209750del	NCBI36
NG_027677.1:g.22862_22866del

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.482-7_482-3del MANE Select	ENSP00000340736.4:n.482-7_482-3del
ENST00000296048.10:c.482-7_482-3del	ENSP00000296048.6:n.482-7_482-3del
ENST00000345003.8:c.482-7_482-3del	ENSP00000340736.4:n.482-7_482-3del
ENST00000461191.1:c.470-7_470-3del	ENSP00000420247.1:n.470-7_470-3del
ENST00000469873.1:n.389_393del
ENST00000479119.1:n.98-7_98-3del
ENST00000483267.5:c.469+12377_469+12381del	ENSP00000419499.1:n.469+12377_469+12381de...
ENST00000484197.5:c.482-7_482-3del	ENSP00000420683.1:n.482-7_482-3del
ENST00000497528.5:n.121-7_121-3del
ENST00000627418.2:c.469+12377_469+12381del	ENSP00000486061.1:n.469+12377_469+12381de...
NM_001184720.1:c.482-7_482-3del	NP_001171649.1:n.482-7_482-3del
NM_001184721.1:c.482-7_482-3del	NP_001171650.1:n.482-7_482-3del
NM_004130.3:c.482-7_482-3del	NP_004121.2:n.482-7_482-3del
XM_017006275.1:c.305-7_305-3del	XP_016861764.1:n.305-7_305-3del
XM_017006276.1:c.20-7_20-3del	XP_016861765.1:n.20-7_20-3del
NM_004130.4:c.482-7_482-3del MANE Select	NP_004121.2:n.482-7_482-3del
NM_001184720.2:c.482-7_482-3del	NP_001171649.1:n.482-7_482-3del
NM_001184721.2:c.482-7_482-3del	NP_001171650.1:n.482-7_482-3del