Canonical Allele Identifier: CA634168094

Gene: AVP

Linked Data

• gnomAD v2: 20-3063349-GC-G
• gnomAD v4: 20-3082703-GC-G
• MyVariant Identifiers: chr20:g.3063350del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082707del , CM000682.2:g.3082707del	GRCh38
NC_000020.10:g.3063353del , CM000682.1:g.3063353del	GRCh37
NC_000020.9:g.3011353del	NCBI36
NG_008663.1:g.7021del , LRG_715:g.7021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.421del MANE Select	ENSP00000369647.3:p.Ala141ProfsTer?
NM_000490.4:c.421del , LRG_715t1:c.421del	NP_000481.2:p.Ala141ProfsTer?
XM_011529267.1:c.421del	XP_011527569.1:p.Ala141ProfsTer?
XM_011529267.2:c.421del	XP_011527569.1:p.Ala141ProfsTer?
NM_000490.5:c.421del MANE Select	NP_000481.2:p.Ala141ProfsTer?