Canonical Allele Identifier: CA2651674852

Gene: AVP

Linked Data

• gnomAD v4: 20-3083160-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3083164del , CM000682.2:g.3083164del	GRCh38
NC_000020.10:g.3063810del , CM000682.1:g.3063810del	GRCh37
NC_000020.9:g.3011810del	NCBI36
NG_008663.1:g.6564del , LRG_715:g.6564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.138del MANE Select	ENSP00000369647.3:p.Gly48AlafsTer?
NM_000490.4:c.138del , LRG_715t1:c.138del	NP_000481.2:p.Gly48AlafsTer?
XM_011529267.1:c.138del	XP_011527569.1:p.Gly48AlafsTer?
XM_011529267.2:c.138del	XP_011527569.1:p.Gly48AlafsTer?
NM_000490.5:c.138del MANE Select	NP_000481.2:p.Gly48AlafsTer?