Canonical Allele Identifier: CA634328927

Gene: AVP

Linked Data

• dbSNP Id: rs1398869147
• gnomAD v2: 20-3063801-GC-G
• gnomAD v4: 20-3083155-GC-G
• MyVariant Identifiers: chr20:g.3063802del (hg19) ; chr20:g.3083156del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3083160del , CM000682.2:g.3083160del	GRCh38
NC_000020.10:g.3063806del , CM000682.1:g.3063806del	GRCh37
NC_000020.9:g.3011806del	NCBI36
NG_008663.1:g.6569del , LRG_715:g.6569del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380293.3:c.143del MANE Select	ENSP00000369647.3:p.Gly48AlafsTer?
NM_000490.4:c.143del , LRG_715t1:c.143del	NP_000481.2:p.Gly48AlafsTer?
XM_011529267.1:c.143del	XP_011527569.1:p.Gly48AlafsTer?
XM_011529267.2:c.143del	XP_011527569.1:p.Gly48AlafsTer?
NM_000490.5:c.143del MANE Select	NP_000481.2:p.Gly48AlafsTer?