Canonical Allele Identifier: CA2291645192

Gene: AQP4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855459_26855461delinsCTT , CM000680.2:g.26855459_26855461delinsCTT	GRCh38
NC_000018.9:g.24435423_24435425delinsCTT , CM000680.1:g.24435423_24435425delinsCTT	GRCh37
NC_000018.8:g.22689421_22689423delinsCTT	NCBI36
NG_029560.1:g.15292_15294delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.*750_*752delinsAAG MANE Select	ENSP00000372654.4:n.*750_*752delinsAAG
ENST00000672188.1:c.*750_*752delinsAAG	ENSP00000500720.1:n.*750_*752delinsAAG
ENST00000672981.2:c.*663_*665delinsAAG	ENSP00000500598.2:n.*663_*665delinsAAG
ENST00000383168.8:c.*750_*752delinsAAG	ENSP00000372654.4:n.*750_*752delinsAAG
NM_001650.4:c.*750_*752delinsAAG	NP_001641.1:n.*750_*752delinsAAG
NM_004028.3:c.*750_*752delinsAAG	NP_004019.1:n.*750_*752delinsAAG
XM_011525942.1:c.*750_*752delinsAAG	XP_011524244.1:n.*750_*752delinsAAG
NM_001317384.2:c.*663_*665delinsAAG	NP_001304313.1:n.*663_*665delinsAAG
NM_001317387.2:c.*750_*752delinsAAG	NP_001304316.1:n.*750_*752delinsAAG
NM_001364286.1:c.*750_*752delinsAAG	NP_001351215.1:n.*750_*752delinsAAG
NM_001364287.1:c.*663_*665delinsAAG	NP_001351216.1:n.*663_*665delinsAAG
NM_001364289.1:c.*663_*665delinsAAG	NP_001351218.1:n.*663_*665delinsAAG
NM_001650.6:c.*750_*752delinsAAG	NP_001641.1:n.*750_*752delinsAAG
NM_004028.4:c.*750_*752delinsAAG	NP_004019.1:n.*750_*752delinsAAG
XM_011525942.3:c.*750_*752delinsAAG	XP_011524244.1:n.*750_*752delinsAAG
NM_001650.7:c.*750_*752delinsAAG MANE Select	NP_001641.1:n.*750_*752delinsAAG
NM_001317384.3:c.*663_*665delinsAAG	NP_001304313.1:n.*663_*665delinsAAG
NM_001317387.3:c.*750_*752delinsAAG	NP_001304316.1:n.*750_*752delinsAAG
NM_001364289.2:c.*663_*665delinsAAG	NP_001351218.1:n.*663_*665delinsAAG
NM_004028.5:c.*750_*752delinsAAG	NP_004019.1:n.*750_*752delinsAAG