Canonical Allele Identifier: CA2651674376

Gene: AVP

Linked Data

• gnomAD v4: 20-3082785-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082786dup , CM000682.2:g.3082786dup	GRCh38
NC_000020.10:g.3063432dup , CM000682.1:g.3063432dup	GRCh37
NC_000020.9:g.3011432dup	NCBI36
NG_008663.1:g.6939dup , LRG_715:g.6939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.339dup MANE Select	ENSP00000369647.3:p.Pro114AlafsTer?
NM_000490.4:c.339dup , LRG_715t1:c.339dup	NP_000481.2:p.Pro114AlafsTer?
XM_011529267.1:c.339dup	XP_011527569.1:p.Pro114AlafsTer?
XM_011529267.2:c.339dup	XP_011527569.1:p.Pro114AlafsTer?
NM_000490.5:c.339dup MANE Select	NP_000481.2:p.Pro114AlafsTer?