Canonical Allele Identifier: CA2562730340
Gene: IHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060423_219060425del , CM000664.2:g.219060423_219060425del GRCh38
NC_000002.11:g.219925145_219925147del , CM000664.1:g.219925145_219925147del GRCh37
NC_000002.10:g.219633389_219633391del NCBI36
NG_016741.1:g.5092_5094del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.43_45del MANE Select ENSP00000295731.5:p.Val15del
ENST00000295731.6:c.43_45del ENSP00000295731.5:p.Val15del
NM_002181.3:c.43_45del NP_002172.2:p.Val15del
NM_002181.4:c.43_45del MANE Select NP_002172.2:p.Val15del