Canonical Allele Identifier: CA1139657700
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 834083
ClinVar RCV Id: RCV001257076 RCV001573168
dbSNP Id: rs1948868228
gnomAD v4: 2-219060182-TCTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060186_219060188del , CM000664.2:g.219060186_219060188del GRCh38
NC_000002.11:g.219924908_219924910del , CM000664.1:g.219924908_219924910del GRCh37
NC_000002.10:g.219633152_219633154del NCBI36
NG_016741.1:g.5332_5334del

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.283_285del MANE Select ENSP00000295731.5:p.Glu95del
ENST00000295731.6:c.283_285del ENSP00000295731.5:p.Glu95del
NM_002181.3:c.283_285del NP_002172.2:p.Glu95del
NM_002181.4:c.283_285del MANE Select NP_002172.2:p.Glu95del
Search 100 bp 5'
Search 100 bp 3'