Canonical Allele Identifier: CA634168092

Gene: AVP

Linked Data

• dbSNP Id: rs1409851076
• gnomAD v2: 20-3063316-GC-G
• gnomAD v4: 20-3082670-GC-G
• MyVariant Identifiers: chr20:g.3063317del (hg19) ; chr20:g.3082671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082674del , CM000682.2:g.3082674del	GRCh38
NC_000020.10:g.3063320del , CM000682.1:g.3063320del	GRCh37
NC_000020.9:g.3011320del	NCBI36
NG_008663.1:g.7054del , LRG_715:g.7054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.454del MANE Select	ENSP00000369647.3:p.Ala152ArgfsTer?
NM_000490.4:c.454del , LRG_715t1:c.454del	NP_000481.2:p.Ala152ArgfsTer?
XM_011529267.1:c.454del	XP_011527569.1:p.Ala152ArgfsTer?
XM_011529267.2:c.454del	XP_011527569.1:p.Ala152ArgfsTer?
NM_000490.5:c.454del MANE Select	NP_000481.2:p.Ala152ArgfsTer?