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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:
CA2346405598
Gene: AVP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3083154_3083155delinsTG , CM000682.2:g.3083154_3083155delinsTG
GRCh38
NC_000020.10:g.3063800_3063801delinsTG , CM000682.1:g.3063800_3063801delinsTG
GRCh37
NC_000020.9:g.3011800_3011801delinsTG
NCBI36
NG_008663.1:g.6570_6571delinsCA , LRG_715:g.6570_6571delinsCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000380293.3:c.144_145delinsCA
MANE Select
ENSP00000369647.3:p.Gly48=
NM_000490.4:c.144_145delinsCA , LRG_715t1:c.144_145delinsCA
NP_000481.2:p.Gly48=
XM_011529267.1:c.144_145delinsCA
XP_011527569.1:p.Gly48=
XM_011529267.2:c.144_145delinsCA
XP_011527569.1:p.Gly48=
NM_000490.5:c.144_145delinsCA
MANE Select
NP_000481.2:p.Gly48=
Search 100 bp 5'
Search 100 bp 3'