Canonical Allele Identifier: CA178367052

Gene: GGH

Linked Data

• dbSNP Id: rs536747486
• gnomAD v2: 8-63951556-TCCGCGA-T
• gnomAD v3: 8-63038997-TCCGCGA-T
• gnomAD v4: 8-63038997-TCCGCGA-T
• MyVariant Identifiers: chr8:g.63951557_63951562del (hg19) ; chr8:g.63038998_63039003del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63039012_63039017del , CM000670.2:g.63039012_63039017del	GRCh38
NC_000008.10:g.63951571_63951576del , CM000670.1:g.63951571_63951576del	GRCh37
NC_000008.9:g.64114125_64114130del	NCBI36
NG_028126.1:g.5049_5054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.405_410del
ENST00000679326.1:c.-235_-230del	ENSP00000504262.1:n.-235_-230del
ENST00000260118.6:c.-235_-230del	ENSP00000260118.6:n.-235_-230del
NM_003878.2:c.-235_-230del	NP_003869.1:n.-235_-230del
XM_011517623.1:c.-235_-230del	XP_011515925.1:n.-235_-230del