Canonical Allele Identifier: CA2651674588

Gene: AVP

Linked Data

• gnomAD v4: 20-3082903-C-CCCCCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082903_3082904insCCCCCCCG , CM000682.2:g.3082903_3082904insCCCCCCCG	GRCh38
NC_000020.10:g.3063549_3063550insCCCCCCCG , CM000682.1:g.3063549_3063550insCCCCCCCG	GRCh37
NC_000020.9:g.3011549_3011550insCCCCCCCG	NCBI36
NG_008663.1:g.6821_6822insCGGGGGGG , LRG_715:g.6821_6822insCGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.322+73_322+74insCGGGGGGG MANE Select	ENSP00000369647.3:n.322+73_322+74insCGGGGGGG
NM_000490.4:c.322+73_322+74insCGGGGGGG , LRG_715t1:c.322+73_322+74insCGGGGGGG	NP_000481.2:n.322+73_322+74insCGGGGGGG
XM_011529267.1:c.322+73_322+74insCGGGGGGG	XP_011527569.1:n.322+73_322+74insCGGGGGGG
XM_011529267.2:c.322+73_322+74insCGGGGGGG	XP_011527569.1:n.322+73_322+74insCGGGGGGG
NM_000490.5:c.322+73_322+74insCGGGGGGG MANE Select	NP_000481.2:n.322+73_322+74insCGGGGGGG