Canonical Allele Identifier: CA10641634

Gene: AQP2 AQP5-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49957900_49957903del , CM000674.2:g.49957900_49957903del	GRCh38
NC_000012.11:g.50351683_50351686del , CM000674.1:g.50351683_50351686del	GRCh37
NC_000012.10:g.48637950_48637953del	NCBI36
NG_008913.1:g.12160_12163del , LRG_717:g.12160_12163del
NG_033883.1:g.1405_1408del

Transcript Alleles

HGVS	Amino-acid Change
NM_000486.6:c.*2292_*2295del (AQP2) MANE Select	NP_000477.1:n.*2292_*2295del
ENST00000199280.4:c.*2292_*2295del (AQP2) MANE Select	ENSP00000199280.3:n.*2292_*2295del
NM_000486.5:c.*2292_*2295del , LRG_717t1:c.*2292_*2295del (AQP2)	NP_000477.1:n.*2292_*2295del
NR_110590.1:n.257-3552_257-3549del (AQP5-AS1)
NR_110591.1:n.117+4767_117+4770del (AQP5-AS1)
ENST00000199280.3:c.*2292_*2295del (AQP2)	ENSP00000199280.3:n.*2292_*2295del
ENST00000551526.5:c.*527_*530del (AQP2)	ENSP00000447148.1:n.*527_*530del