Canonical Allele Identifier: CA2663195131

Gene: IHH

Linked Data

• gnomAD v4: 2-219060380-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060383del , CM000664.2:g.219060383del	GRCh38
NC_000002.11:g.219925105del , CM000664.1:g.219925105del	GRCh37
NC_000002.10:g.219633349del	NCBI36
NG_016741.1:g.5136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.87del MANE Select	ENSP00000295731.5:p.Pro30ArgfsTer?
ENST00000295731.6:c.87del	ENSP00000295731.5:p.Pro30ArgfsTer?
NM_002181.3:c.87del	NP_002172.2:p.Pro30ArgfsTer?
NM_002181.4:c.87del MANE Select	NP_002172.2:p.Pro30ArgfsTer?