Canonical Allele Identifier: CA854142329

Gene: GGH

Linked Data

• dbSNP Id: rs1226507082
• gnomAD v3: 8-63038958-AGCCGGCGCTGC-A
• gnomAD v4: 8-63038958-AGCCGGCGCTGC-A
• MyVariant Identifiers: chr8:g.63951518_63951528del (hg19) ; chr8:g.63038959_63038969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038961_63038971del , CM000670.2:g.63038961_63038971del	GRCh38
NC_000008.10:g.63951520_63951530del , CM000670.1:g.63951520_63951530del	GRCh37
NC_000008.9:g.64114074_64114084del	NCBI36
NG_028126.1:g.5083_5093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.439_449del
ENST00000679326.1:c.-201_-191del	ENSP00000504262.1:n.-201_-191del
ENST00000260118.6:c.-201_-191del	ENSP00000260118.6:n.-201_-191del
NM_003878.2:c.-201_-191del	NP_003869.1:n.-201_-191del
XM_011517623.1:c.-201_-191del	XP_011515925.1:n.-201_-191del