Canonical Allele Identifier: CA2291645075

Gene: AQP4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855165_26855168delinsCCTT , CM000680.2:g.26855165_26855168delinsCCTT	GRCh38
NC_000018.9:g.24435129_24435132delinsCCTT , CM000680.1:g.24435129_24435132delinsCCTT	GRCh37
NC_000018.8:g.22689127_22689130delinsCCTT	NCBI36
NG_029560.1:g.15585_15588delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.*1043_*1046delinsAAGG MANE Select	ENSP00000372654.4:n.*1043_*1046delinsAAGG
ENST00000672188.1:c.*1043_*1046delinsAAGG	ENSP00000500720.1:n.*1043_*1046delinsAAGG
ENST00000672981.2:c.*956_*959delinsAAGG	ENSP00000500598.2:n.*956_*959delinsAAGG
ENST00000383168.8:c.*1043_*1046delinsAAGG	ENSP00000372654.4:n.*1043_*1046delinsAAGG
NM_001650.4:c.*1043_*1046delinsAAGG	NP_001641.1:n.*1043_*1046delinsAAGG
NM_004028.3:c.*1043_*1046delinsAAGG	NP_004019.1:n.*1043_*1046delinsAAGG
XM_011525942.1:c.*1043_*1046delinsAAGG	XP_011524244.1:n.*1043_*1046delinsAAGG
NM_001317384.2:c.*956_*959delinsAAGG	NP_001304313.1:n.*956_*959delinsAAGG
NM_001317387.2:c.*1043_*1046delinsAAGG	NP_001304316.1:n.*1043_*1046delinsAAGG
NM_001364286.1:c.*1043_*1046delinsAAGG	NP_001351215.1:n.*1043_*1046delinsAAGG
NM_001364287.1:c.*956_*959delinsAAGG	NP_001351216.1:n.*956_*959delinsAAGG
NM_001364289.1:c.*956_*959delinsAAGG	NP_001351218.1:n.*956_*959delinsAAGG
NM_001650.6:c.*1043_*1046delinsAAGG	NP_001641.1:n.*1043_*1046delinsAAGG
NM_004028.4:c.*1043_*1046delinsAAGG	NP_004019.1:n.*1043_*1046delinsAAGG
XM_011525942.3:c.*1043_*1046delinsAAGG	XP_011524244.1:n.*1043_*1046delinsAAGG
NM_001650.7:c.*1043_*1046delinsAAGG MANE Select	NP_001641.1:n.*1043_*1046delinsAAGG
NM_001317384.3:c.*956_*959delinsAAGG	NP_001304313.1:n.*956_*959delinsAAGG
NM_001317387.3:c.*1043_*1046delinsAAGG	NP_001304316.1:n.*1043_*1046delinsAAGG
NM_001364289.2:c.*956_*959delinsAAGG	NP_001351218.1:n.*956_*959delinsAAGG
NM_004028.5:c.*1043_*1046delinsAAGG	NP_004019.1:n.*1043_*1046delinsAAGG