Canonical Allele Identifier: CA777985564

Gene: AQP4

Linked Data

• dbSNP Id: rs1458952528
• gnomAD v3: 18-26855225-CTTG-C
• gnomAD v4: 18-26855225-CTTG-C
• MyVariant Identifiers: chr18:g.24435190_24435192del (hg19) ; chr18:g.26855226_26855228del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855228_26855230del , CM000680.2:g.26855228_26855230del	GRCh38
NC_000018.9:g.24435192_24435194del , CM000680.1:g.24435192_24435194del	GRCh37
NC_000018.8:g.22689190_22689192del	NCBI36
NG_029560.1:g.15525_15527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.*983_*985del MANE Select	ENSP00000372654.4:n.*983_*985del
ENST00000672188.1:c.*983_*985del	ENSP00000500720.1:n.*983_*985del
ENST00000672981.2:c.*896_*898del	ENSP00000500598.2:n.*896_*898del
ENST00000383168.8:c.*983_*985del	ENSP00000372654.4:n.*983_*985del
NM_001650.4:c.*983_*985del	NP_001641.1:n.*983_*985del
NM_004028.3:c.*983_*985del	NP_004019.1:n.*983_*985del
XM_011525942.1:c.*983_*985del	XP_011524244.1:n.*983_*985del
NM_001317384.2:c.*896_*898del	NP_001304313.1:n.*896_*898del
NM_001317387.2:c.*983_*985del	NP_001304316.1:n.*983_*985del
NM_001364286.1:c.*983_*985del	NP_001351215.1:n.*983_*985del
NM_001364287.1:c.*896_*898del	NP_001351216.1:n.*896_*898del
NM_001364289.1:c.*896_*898del	NP_001351218.1:n.*896_*898del
NM_001650.6:c.*983_*985del	NP_001641.1:n.*983_*985del
NM_004028.4:c.*983_*985del	NP_004019.1:n.*983_*985del
XM_011525942.3:c.*983_*985del	XP_011524244.1:n.*983_*985del
NM_001650.7:c.*983_*985del MANE Select	NP_001641.1:n.*983_*985del
NM_001317384.3:c.*896_*898del	NP_001304313.1:n.*896_*898del
NM_001317387.3:c.*983_*985del	NP_001304316.1:n.*983_*985del
NM_001364289.2:c.*896_*898del	NP_001351218.1:n.*896_*898del
NM_004028.5:c.*983_*985del	NP_004019.1:n.*983_*985del