Canonical Allele Identifier: CA2663195191

Gene: IHH

Linked Data

• gnomAD v4: 2-219060442-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060446del , CM000664.2:g.219060446del	GRCh38
NC_000002.11:g.219925168del , CM000664.1:g.219925168del	GRCh37
NC_000002.10:g.219633412del	NCBI36
NG_016741.1:g.5074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.25del MANE Select	ENSP00000295731.5:p.Arg9AspfsTer?
ENST00000295731.6:c.25del	ENSP00000295731.5:p.Arg9AspfsTer?
NM_002181.3:c.25del	NP_002172.2:p.Arg9AspfsTer?
NM_002181.4:c.25del MANE Select	NP_002172.2:p.Arg9AspfsTer?