Canonical Allele Identifier: CA988602267
Gene: AQP4 HGNC NCBI

Linked Data

dbSNP Id: rs2055032641

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.26865040_26865041insCT , CM000680.2:g.26865040_26865041insCT GRCh38
NC_000018.9:g.24445004_24445005insCT , CM000680.1:g.24445004_24445005insCT GRCh37
NC_000018.8:g.22699002_22699003insCT NCBI36
NG_029560.1:g.5713_5714insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000383168.9:c.32+618_32+619insGA MANE Select ENSP00000372654.4:n.32+618_32+619insGA
ENST00000672188.1:c.32+618_32+619insGA ENSP00000500720.1:n.32+618_32+619insGA
ENST00000672981.2:c.32+618_32+619insGA ENSP00000500598.2:n.32+618_32+619insGA
ENST00000675739.1:c.32+618_32+619insGA ENSP00000502364.1:n.32+618_32+619insGA
ENST00000383168.8:c.32+618_32+619insGA ENSP00000372654.4:n.32+618_32+619insGA
ENST00000383170.3:c.32+618_32+619insGA ENSP00000372656.3:n.32+618_32+619insGA
ENST00000578776.1:c.32+618_32+619insGA ENSP00000462075.1:n.32+618_32+619insGA
ENST00000622234.4:c.32+618_32+619insGA ENSP00000484446.1:n.32+618_32+619insGA
NM_001650.4:c.32+618_32+619insGA NP_001641.1:n.32+618_32+619insGA
NM_001317384.2:c.32+618_32+619insGA NP_001304313.1:n.32+618_32+619insGA
NM_001317387.2:c.32+618_32+619insGA NP_001304316.1:n.32+618_32+619insGA
NM_001364286.1:c.-35+618_-35+619insGA NP_001351215.1:n.-35+618_-35+619insGA
NM_001364287.1:c.-35+618_-35+619insGA NP_001351216.1:n.-35+618_-35+619insGA
NM_001650.6:c.32+618_32+619insGA NP_001641.1:n.32+618_32+619insGA
NM_001650.7:c.32+618_32+619insGA MANE Select NP_001641.1:n.32+618_32+619insGA
NM_001317384.3:c.32+618_32+619insGA NP_001304313.1:n.32+618_32+619insGA
NM_001317387.3:c.32+618_32+619insGA NP_001304316.1:n.32+618_32+619insGA