Canonical Allele Identifier: CA2668124947

Gene: GYG1

Linked Data

• gnomAD v4: 3-148994138-TAAGATCAGGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994139_148994149del , CM000665.2:g.148994139_148994149del	GRCh38
NC_000003.11:g.148711926_148711936del , CM000665.1:g.148711926_148711936del	GRCh37
NC_000003.10:g.150194616_150194626del	NCBI36
NG_027677.1:g.7732_7742del

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.8-3_15del
ENST00000296048.10:c.8-3_15del
ENST00000345003.8:c.8-3_15del
ENST00000461191.1:c.8-3_15del
ENST00000473005.1:c.-131-3_-124del
ENST00000478067.1:n.109-3_116del
ENST00000483267.5:c.8-3_15del
ENST00000484197.5:c.8-3_15del
ENST00000492285.6:c.-131-3_-124del
ENST00000627418.2:c.8-3_15del
NM_001184720.1:c.8-3_15del
NM_001184721.1:c.8-3_15del
NM_004130.3:c.8-3_15del
XM_017006275.1:c.-34-2163_-34-2153del	XP_016861764.1:n.-34-2163_-34-2153del
NM_004130.4:c.8-3_15del
NM_001184720.2:c.8-3_15del
NM_001184721.2:c.8-3_15del