Canonical Allele Identifier: CA634328995

Gene: AVP

Linked Data

• gnomAD v2: 20-3063592-C-CCCCAG
• gnomAD v4: 20-3082946-C-CCCCAG
• MyVariant Identifiers: chr20:g.3063592_3063593insCCCAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082950_3082954dup , CM000682.2:g.3082950_3082954dup	GRCh38
NC_000020.10:g.3063596_3063600dup , CM000682.1:g.3063596_3063600dup	GRCh37
NC_000020.9:g.3011596_3011600dup	NCBI36
NG_008663.1:g.6774_6778dup , LRG_715:g.6774_6778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.322+26_322+30dup MANE Select	ENSP00000369647.3:n.322+26_322+30dup
NM_000490.4:c.322+26_322+30dup , LRG_715t1:c.322+26_322+30dup	NP_000481.2:n.322+26_322+30dup
XM_011529267.1:c.322+26_322+30dup	XP_011527569.1:n.322+26_322+30dup
XM_011529267.2:c.322+26_322+30dup	XP_011527569.1:n.322+26_322+30dup
NM_000490.5:c.322+26_322+30dup MANE Select	NP_000481.2:n.322+26_322+30dup