Canonical Allele Identifier: CA2618691398
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49951219-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951223del , CM000674.2:g.49951223del GRCh38
NC_000012.11:g.50345006del , CM000674.1:g.50345006del GRCh37
NC_000012.10:g.48631273del NCBI36
NG_008913.1:g.5483del , LRG_717:g.5483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.360+33del MANE Select ENSP00000199280.3:n.360+33del
ENST00000199280.3:c.360+33del ENSP00000199280.3:n.360+33del
ENST00000550862.1:c.360+33del ENSP00000450022.1:n.360+33del
ENST00000551526.5:c.360+33del ENSP00000447148.1:n.360+33del
NM_000486.5:c.360+33del , LRG_717t1:c.360+33del NP_000477.1:n.360+33del
NM_000486.6:c.360+33del MANE Select NP_000477.1:n.360+33del
Search 100 bp 5'
Search 100 bp 3'