Canonical Allele Identifier: CA1329042679
Gene: IHH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060389_219060415delinsCCCATGCCGCCGGCACCACCAGCAGCA , CM000664.2:g.219060389_219060415delinsCCCATGCCGCCGGCACCACCAGCAGCA GRCh38
NC_000002.11:g.219925111_219925137delinsCCCATGCCGCCGGCACCACCAGCAGCA , CM000664.1:g.219925111_219925137delinsCCCATGCCGCCGGCACCACCAGCAGCA GRCh37
NC_000002.10:g.219633355_219633381delinsCCCATGCCGCCGGCACCACCAGCAGCA NCBI36
NG_016741.1:g.5102_5128delinsTGCTGCTGGTGGTGCCGGCGGCATGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.53_79delinsTGCTGCTGGTGGTGCCGGCGGCATGGG MANE Select ENSP00000295731.5:p.Leu18=
ENST00000295731.6:c.53_79delinsTGCTGCTGGTGGTGCCGGCGGCATGGG ENSP00000295731.5:p.Leu18=
NM_002181.3:c.53_79delinsTGCTGCTGGTGGTGCCGGCGGCATGGG NP_002172.2:p.Leu18=
NM_002181.4:c.53_79delinsTGCTGCTGGTGGTGCCGGCGGCATGGG MANE Select NP_002172.2:p.Leu18=
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