Canonical Allele Identifier: CA2651674603

Gene: AVP

Linked Data

• gnomAD v4: 20-3082906-C-CCGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082906_3082907insCGGGGG , CM000682.2:g.3082906_3082907insCGGGGG	GRCh38
NC_000020.10:g.3063552_3063553insCGGGGG , CM000682.1:g.3063552_3063553insCGGGGG	GRCh37
NC_000020.9:g.3011552_3011553insCGGGGG	NCBI36
NG_008663.1:g.6818_6819insCCCCCG , LRG_715:g.6818_6819insCCCCCG

Transcript Alleles

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