Canonical Allele Identifier: CA85504662

Gene: GYG1

Linked Data

• dbSNP Id: rs1054619538
• gnomAD v3: 3-149009501-CAGAT-C
• gnomAD v4: 3-149009501-CAGAT-C
• MyVariant Identifiers: chr3:g.148727289_148727292del (hg19) ; chr3:g.149009502_149009505del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009505_149009508del , CM000665.2:g.149009505_149009508del	GRCh38
NC_000003.11:g.148727292_148727295del , CM000665.1:g.148727292_148727295del	GRCh37
NC_000003.10:g.150209982_150209985del	NCBI36
NG_027677.1:g.23098_23101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.608+103_608+106del MANE Select	ENSP00000340736.4:n.608+103_608+106del
ENST00000296048.10:c.608+103_608+106del	ENSP00000296048.6:n.608+103_608+106del
ENST00000345003.8:c.608+103_608+106del	ENSP00000340736.4:n.608+103_608+106del
ENST00000461191.1:c.596+103_596+106del	ENSP00000420247.1:n.596+103_596+106del
ENST00000469873.1:n.522+103_522+106del
ENST00000479119.1:n.224+103_224+106del
ENST00000483267.5:c.469+12613_469+12616del	ENSP00000419499.1:n.469+12613_469+12616del
ENST00000484197.5:c.608+103_608+106del	ENSP00000420683.1:n.608+103_608+106del
ENST00000627418.2:c.469+12613_469+12616del	ENSP00000486061.1:n.469+12613_469+12616del
NM_001184720.1:c.608+103_608+106del	NP_001171649.1:n.608+103_608+106del
NM_001184721.1:c.608+103_608+106del	NP_001171650.1:n.608+103_608+106del
NM_004130.3:c.608+103_608+106del	NP_004121.2:n.608+103_608+106del
XM_017006275.1:c.431+103_431+106del	XP_016861764.1:n.431+103_431+106del
XM_017006276.1:c.146+103_146+106del	XP_016861765.1:n.146+103_146+106del
NM_004130.4:c.608+103_608+106del MANE Select	NP_004121.2:n.608+103_608+106del
NM_001184720.2:c.608+103_608+106del	NP_001171649.1:n.608+103_608+106del
NM_001184721.2:c.608+103_608+106del	NP_001171650.1:n.608+103_608+106del