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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:
CA2651675092
Gene: AVP
HGNC
NCBI
Linked Data
gnomAD v4:
20-3084461-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3084462del , CM000682.2:g.3084462del
GRCh38
NC_000020.10:g.3065108del , CM000682.1:g.3065108del
GRCh37
NC_000020.9:g.3013108del
NCBI36
NG_008663.1:g.5263del , LRG_715:g.5263del
Transcript Alleles
HGVS
Amino-acid change
ENST00000380293.3:c.120+93del
MANE Select
ENSP00000369647.3:n.120+93del
NM_000490.4:c.120+93del , LRG_715t1:c.120+93del
NP_000481.2:n.120+93del
XM_011529267.1:c.120+93del
XP_011527569.1:n.120+93del
XM_011529267.2:c.120+93del
XP_011527569.1:n.120+93del
NM_000490.5:c.120+93del
MANE Select
NP_000481.2:n.120+93del
Search 100 bp 5'
Search 100 bp 3'