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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1329042581
Gene: IHH
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219060182_219060185delinsTCTC , CM000664.2:g.219060182_219060185delinsTCTC
GRCh38
NC_000002.11:g.219924904_219924907delinsTCTC , CM000664.1:g.219924904_219924907delinsTCTC
GRCh37
NC_000002.10:g.219633148_219633151delinsTCTC
NCBI36
NG_016741.1:g.5332_5335delinsGAGA
Transcript Alleles
HGVS
Amino-acid change
ENST00000295731.7:c.283_286delinsGAGA
MANE Select
ENSP00000295731.5:p.Glu95=
ENST00000295731.6:c.283_286delinsGAGA
ENSP00000295731.5:p.Glu95=
NM_002181.3:c.283_286delinsGAGA
NP_002172.2:p.Glu95=
NM_002181.4:c.283_286delinsGAGA
MANE Select
NP_002172.2:p.Glu95=
Search 100 bp 5'
Search 100 bp 3'