Canonical Allele Identifier: CA2650971173

Gene: AGT

Linked Data

• gnomAD v4: 1-230703223-GGGCGGTTCAGGGTCACCTCCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230703225_230703246del , CM000663.2:g.230703225_230703246del	GRCh38
NC_000001.10:g.230838971_230838992del , CM000663.1:g.230838971_230838992del	GRCh37
NC_000001.9:g.228905594_228905615del	NCBI36
NG_008836.1:g.16346_16367del
NG_008836.2:g.16346_16367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.1327_1348del MANE Select	ENSP00000355627.5:p.Leu443HisfsTer24
ENST00000679738.1:c.1327_1348del	ENSP00000505063.1:p.Leu443HisfsTer24
ENST00000679802.1:c.*786_*807del	ENSP00000505184.1:n.*786_*807del
ENST00000679854.1:n.5632_5653del
ENST00000679957.1:c.1318_1339del	ENSP00000506646.1:p.Leu440HisfsTer24
ENST00000680041.1:c.1327_1348del	ENSP00000504866.1:p.Leu443HisfsTer24
ENST00000680783.1:c.829+6750_829+6771del	ENSP00000506329.1:n.829+6750_829+6771del
ENST00000681269.1:c.1327_1348del	ENSP00000505985.1:p.Leu443HisfsTer24
ENST00000681347.1:n.3433_3454del
ENST00000681514.1:c.1327_1348del	ENSP00000505963.1:p.Leu443HisfsTer24
ENST00000681772.1:c.*821_*842del	ENSP00000505829.1:n.*821_*842del
ENST00000366667.4:c.1354_1375del	ENSP00000355627.4:p.Leu452HisfsTer24
NM_000029.3:c.1354_1375del	NP_000020.1:p.Leu452HisfsTer24
NM_000029.4:c.1354_1375del	NP_000020.1:p.Leu452HisfsTer24
NM_001382817.3:c.1327_1348del	NP_001369746.2:p.Leu443HisfsTer24
NM_001384479.1:c.1327_1348del MANE Select	NP_001371408.1:p.Leu443HisfsTer24