Canonical Allele Identifier: CA1139662687

Gene: AQP2 AQP5-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49955589_49955625del , CM000674.2:g.49955589_49955625del	GRCh38
NC_000012.11:g.50349372_50349408del , CM000674.1:g.50349372_50349408del	GRCh37
NC_000012.10:g.48635639_48635675del	NCBI36
NG_008913.1:g.9849_9885del , LRG_717:g.9849_9885del

Transcript Alleles

HGVS	Amino-acid Change
NM_000486.6:c.797_*17del (AQP2) MANE Select	NP_000477.1:n.[c.797_*17del;Pro266LeufsTer?]
ENST00000199280.4:c.797_*17del (AQP2) MANE Select	ENSP00000199280.3:n.[c.797_*17del;Pro266LeufsTer?]
NM_000486.5:c.797_*17del , LRG_717t1:c.797_*17del (AQP2)	NP_000477.1:n.[c.797_*17del;Pro266LeufsTer?]
NR_110590.1:n.257-1276_257-1240del (AQP5-AS1)
NR_110591.1:n.118-3536_118-3500del (AQP5-AS1)
ENST00000199280.3:c.797_*17del (AQP2)	ENSP00000199280.3:n.[c.797_*17del;Pro266LeufsTer?]
ENST00000551526.5:c.631+166_632-161del (AQP2)	ENSP00000447148.1:n.631+166_632-161del