Canonical Allele Identifier: CA2651674358

Gene: AVP

Linked Data

• gnomAD v4: 20-3082718-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082720del , CM000682.2:g.3082720del	GRCh38
NC_000020.10:g.3063366del , CM000682.1:g.3063366del	GRCh37
NC_000020.9:g.3011366del	NCBI36
NG_008663.1:g.7006del , LRG_715:g.7006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.406del MANE Select	ENSP00000369647.3:p.Asp136ThrfsTer?
NM_000490.4:c.406del , LRG_715t1:c.406del	NP_000481.2:p.Asp136ThrfsTer?
XM_011529267.1:c.406del	XP_011527569.1:p.Asp136ThrfsTer?
XM_011529267.2:c.406del	XP_011527569.1:p.Asp136ThrfsTer?
NM_000490.5:c.406del MANE Select	NP_000481.2:p.Asp136ThrfsTer?