Canonical Allele Identifier: CA2291645177

Gene: AQP4

Linked Data

• dbSNP Id: rs2054823986

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855432_26855433del , CM000680.2:g.26855432_26855433del	GRCh38
NC_000018.9:g.24435396_24435397del , CM000680.1:g.24435396_24435397del	GRCh37
NC_000018.8:g.22689394_22689395del	NCBI36
NG_029560.1:g.15323_15324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.*781_*782del MANE Select	ENSP00000372654.4:n.*781_*782del
ENST00000672188.1:c.*781_*782del	ENSP00000500720.1:n.*781_*782del
ENST00000672981.2:c.*694_*695del	ENSP00000500598.2:n.*694_*695del
ENST00000383168.8:c.*781_*782del	ENSP00000372654.4:n.*781_*782del
NM_001650.4:c.*781_*782del	NP_001641.1:n.*781_*782del
NM_004028.3:c.*781_*782del	NP_004019.1:n.*781_*782del
XM_011525942.1:c.*781_*782del	XP_011524244.1:n.*781_*782del
NM_001317384.2:c.*694_*695del	NP_001304313.1:n.*694_*695del
NM_001317387.2:c.*781_*782del	NP_001304316.1:n.*781_*782del
NM_001364286.1:c.*781_*782del	NP_001351215.1:n.*781_*782del
NM_001364287.1:c.*694_*695del	NP_001351216.1:n.*694_*695del
NM_001364289.1:c.*694_*695del	NP_001351218.1:n.*694_*695del
NM_001650.6:c.*781_*782del	NP_001641.1:n.*781_*782del
NM_004028.4:c.*781_*782del	NP_004019.1:n.*781_*782del
XM_011525942.3:c.*781_*782del	XP_011524244.1:n.*781_*782del
NM_001650.7:c.*781_*782del MANE Select	NP_001641.1:n.*781_*782del
NM_001317384.3:c.*694_*695del	NP_001304313.1:n.*694_*695del
NM_001317387.3:c.*781_*782del	NP_001304316.1:n.*781_*782del
NM_001364289.2:c.*694_*695del	NP_001351218.1:n.*694_*695del
NM_004028.5:c.*781_*782del	NP_004019.1:n.*781_*782del