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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
Allele Registry
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Canonical Allele Identifier:
CA2695229216
Gene: AVP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3083091_3083093del , CM000682.2:g.3083091_3083093del
GRCh38
NC_000020.10:g.3063737_3063739del , CM000682.1:g.3063737_3063739del
GRCh37
NC_000020.9:g.3011737_3011739del
NCBI36
NG_008663.1:g.6633_6635del , LRG_715:g.6633_6635del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380293.3:c.207_209del
MANE Select
ENSP00000369647.3:p.Ala70del
NM_000490.4:c.207_209del , LRG_715t1:c.207_209del
NP_000481.2:p.Ala70del
XM_011529267.1:c.207_209del
XP_011527569.1:p.Ala70del
XM_011529267.2:c.207_209del
XP_011527569.1:p.Ala70del
NM_000490.5:c.207_209del
MANE Select
NP_000481.2:p.Ala70del
Search 100 bp 5'
Search 100 bp 3'