Canonical Allele Identifier: CA310943146

Gene: AVP

Linked Data

• dbSNP Id: rs775089446
• gnomAD v2: 20-3063588-C-CA
• gnomAD v3: 20-3082942-C-CA
• gnomAD v4: 20-3082942-C-CA
• MyVariant Identifiers: chr20:g.3063588_3063589insA (hg19) ; chr20:g.3082942_3082943insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082942_3082943insA , CM000682.2:g.3082942_3082943insA	GRCh38
NC_000020.10:g.3063588_3063589insA , CM000682.1:g.3063588_3063589insA	GRCh37
NC_000020.9:g.3011588_3011589insA	NCBI36
NG_008663.1:g.6782_6783insT , LRG_715:g.6782_6783insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.322+34_322+35insT MANE Select	ENSP00000369647.3:n.322+34_322+35insT
NM_000490.4:c.322+34_322+35insT , LRG_715t1:c.322+34_322+35insT	NP_000481.2:n.322+34_322+35insT
XM_011529267.1:c.322+34_322+35insT	XP_011527569.1:n.322+34_322+35insT
XM_011529267.2:c.322+34_322+35insT	XP_011527569.1:n.322+34_322+35insT
NM_000490.5:c.322+34_322+35insT MANE Select	NP_000481.2:n.322+34_322+35insT