Canonical Allele Identifier: CA2651674342

Gene: AVP

Linked Data

• gnomAD v4: 20-3082646-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082649del , CM000682.2:g.3082649del	GRCh38
NC_000020.10:g.3063295del , CM000682.1:g.3063295del	GRCh37
NC_000020.9:g.3011295del	NCBI36
NG_008663.1:g.7078del , LRG_715:g.7078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.478del MANE Select	ENSP00000369647.3:p.Gln160SerfsTer?
NM_000490.4:c.478del , LRG_715t1:c.478del	NP_000481.2:p.Gln160SerfsTer?
XM_011529267.1:c.478del	XP_011527569.1:p.Gln160SerfsTer?
XM_011529267.2:c.478del	XP_011527569.1:p.Gln160SerfsTer?
NM_000490.5:c.478del MANE Select	NP_000481.2:p.Gln160SerfsTer?