Canonical Allele Identifier: CA2795926928

Gene: AQP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49951119del , CM000674.2:g.49951119del	GRCh38
NC_000012.11:g.50344902del , CM000674.1:g.50344902del	GRCh37
NC_000012.10:g.48631169del	NCBI36
NG_008913.1:g.5379del , LRG_717:g.5379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.289del MANE Select	ENSP00000199280.3:p.Ala97LeufsTer?
ENST00000199280.3:c.289del	ENSP00000199280.3:p.Ala97LeufsTer?
ENST00000550862.1:c.289del	ENSP00000450022.1:p.Ala97LeufsTer?
ENST00000551526.5:c.289del	ENSP00000447148.1:p.Ala97LeufsTer?
NM_000486.5:c.289del , LRG_717t1:c.289del	NP_000477.1:p.Ala97LeufsTer?
NM_000486.6:c.289del MANE Select	NP_000477.1:p.Ala97LeufsTer?