Canonical Allele Identifier: CA1014830675

Gene: AVP

Linked Data

• dbSNP Id: rs2066117800
• gnomAD v3: 20-3082906-C-CCCCCG
• gnomAD v4: 20-3082906-C-CCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082906_3082907insCCCCG , CM000682.2:g.3082906_3082907insCCCCG	GRCh38
NC_000020.10:g.3063552_3063553insCCCCG , CM000682.1:g.3063552_3063553insCCCCG	GRCh37
NC_000020.9:g.3011552_3011553insCCCCG	NCBI36
NG_008663.1:g.6818_6819insCGGGG , LRG_715:g.6818_6819insCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.322+70_322+71insCGGGG MANE Select	ENSP00000369647.3:n.322+70_322+71insCGGGG
NM_000490.4:c.322+70_322+71insCGGGG , LRG_715t1:c.322+70_322+71insCGGGG	NP_000481.2:n.322+70_322+71insCGGGG
XM_011529267.1:c.322+70_322+71insCGGGG	XP_011527569.1:n.322+70_322+71insCGGGG
XM_011529267.2:c.322+70_322+71insCGGGG	XP_011527569.1:n.322+70_322+71insCGGGG
NM_000490.5:c.322+70_322+71insCGGGG MANE Select	NP_000481.2:n.322+70_322+71insCGGGG