Canonical Allele Identifier: CA634168089

Gene: AVP

Linked Data

• dbSNP Id: rs1209524435
• gnomAD v2: 20-3063308-GCT-G
• gnomAD v3: 20-3082662-GCT-G
• gnomAD v4: 20-3082662-GCT-G
• MyVariant Identifiers: chr20:g.3063309_3063310del (hg19) ; chr20:g.3082663_3082664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082664_3082665del , CM000682.2:g.3082664_3082665del	GRCh38
NC_000020.10:g.3063310_3063311del , CM000682.1:g.3063310_3063311del	GRCh37
NC_000020.9:g.3011310_3011311del	NCBI36
NG_008663.1:g.7061_7062del , LRG_715:g.7061_7062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.461_462del MANE Select	ENSP00000369647.3:p.Glu154AlafsTer?
NM_000490.4:c.461_462del , LRG_715t1:c.461_462del	NP_000481.2:p.Glu154AlafsTer?
XM_011529267.1:c.461_462del	XP_011527569.1:p.Glu154AlafsTer?
XM_011529267.2:c.461_462del	XP_011527569.1:p.Glu154AlafsTer?
NM_000490.5:c.461_462del MANE Select	NP_000481.2:p.Glu154AlafsTer?