Canonical Allele Identifier: CA2291645232

Gene: AQP4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855528_26855529delinsTG , CM000680.2:g.26855528_26855529delinsTG	GRCh38
NC_000018.9:g.24435492_24435493delinsTG , CM000680.1:g.24435492_24435493delinsTG	GRCh37
NC_000018.8:g.22689490_22689491delinsTG	NCBI36
NG_029560.1:g.15224_15225delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.*682_*683delinsCA MANE Select	ENSP00000372654.4:n.*682_*683delinsCA
ENST00000672188.1:c.*682_*683delinsCA	ENSP00000500720.1:n.*682_*683delinsCA
ENST00000672981.2:c.*595_*596delinsCA	ENSP00000500598.2:n.*595_*596delinsCA
ENST00000383168.8:c.*682_*683delinsCA	ENSP00000372654.4:n.*682_*683delinsCA
NM_001650.4:c.*682_*683delinsCA	NP_001641.1:n.*682_*683delinsCA
NM_004028.3:c.*682_*683delinsCA	NP_004019.1:n.*682_*683delinsCA
XM_011525942.1:c.*682_*683delinsCA	XP_011524244.1:n.*682_*683delinsCA
NM_001317384.2:c.*595_*596delinsCA	NP_001304313.1:n.*595_*596delinsCA
NM_001317387.2:c.*682_*683delinsCA	NP_001304316.1:n.*682_*683delinsCA
NM_001364286.1:c.*682_*683delinsCA	NP_001351215.1:n.*682_*683delinsCA
NM_001364287.1:c.*595_*596delinsCA	NP_001351216.1:n.*595_*596delinsCA
NM_001364289.1:c.*595_*596delinsCA	NP_001351218.1:n.*595_*596delinsCA
NM_001650.6:c.*682_*683delinsCA	NP_001641.1:n.*682_*683delinsCA
NM_004028.4:c.*682_*683delinsCA	NP_004019.1:n.*682_*683delinsCA
XM_011525942.3:c.*682_*683delinsCA	XP_011524244.1:n.*682_*683delinsCA
NM_001650.7:c.*682_*683delinsCA MANE Select	NP_001641.1:n.*682_*683delinsCA
NM_001317384.3:c.*595_*596delinsCA	NP_001304313.1:n.*595_*596delinsCA
NM_001317387.3:c.*682_*683delinsCA	NP_001304316.1:n.*682_*683delinsCA
NM_001364289.2:c.*595_*596delinsCA	NP_001351218.1:n.*595_*596delinsCA
NM_004028.5:c.*682_*683delinsCA	NP_004019.1:n.*682_*683delinsCA