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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:
CA2390467976
Gene: RIPK4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.41741159_41741161delinsGGC , CM000683.2:g.41741159_41741161delinsGGC
GRCh38
NC_000021.8:g.43161319_43161321delinsGGC , CM000683.1:g.43161319_43161321delinsGGC
GRCh37
NC_000021.7:g.42034388_42034390delinsGGC
NCBI36
NG_032113.1:g.30929_30931delinsGCC
NG_032113.2:g.30929_30931delinsGCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000332512.8:c.2032_2034delinsGCC
MANE Select
ENSP00000332454.3:p.Ala678=
ENST00000332512.7:c.2032_2034delinsGCC
ENSP00000332454.3:p.Ala678=
ENST00000352483.3:c.2176_2178delinsGCC
ENSP00000330161.2:p.Ala726=
NM_020639.2:c.2032_2034delinsGCC
NP_065690.2:p.Ala678=
NM_020639.3:c.2032_2034delinsGCC
MANE Select
NP_065690.2:p.Ala678=
Search 100 bp 5'
Search 100 bp 3'