×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2651674828
Gene: AVP
HGNC
NCBI
Linked Data
gnomAD v4:
20-3082966-CCGCCGCGCACCGTCGTTGCAGCAAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3082972_3082996del , CM000682.2:g.3082972_3082996del
GRCh38
NC_000020.10:g.3063618_3063642del , CM000682.1:g.3063618_3063642del
GRCh37
NC_000020.9:g.3011618_3011642del
NCBI36
NG_008663.1:g.6734_6758del , LRG_715:g.6734_6758del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380293.3:c.308_322+10del
NM_000490.4:c.308_322+10del , LRG_715t1:c.308_322+10del
XM_011529267.1:c.308_322+10del
XM_011529267.2:c.308_322+10del
NM_000490.5:c.308_322+10del
Search 100 bp 5'
Search 100 bp 3'