Canonical Allele Identifier: CA2574015412

Gene: AGT

Linked Data

• ClinVar Variation Id: 2690862
• ClinVar RCV Id: RCV003489540
• gnomAD v4: 1-230710074-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230710075del , CM000663.2:g.230710075del	GRCh38
NC_000001.10:g.230845821del , CM000663.1:g.230845821del	GRCh37
NC_000001.9:g.228912444del	NCBI36
NG_008836.1:g.9516del
NG_008836.2:g.9516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.749del MANE Select	ENSP00000355627.5:p.Thr250LysfsTer9
ENST00000679684.1:c.749del	ENSP00000505981.1:p.Thr250LysfsTer9
ENST00000679738.1:c.749del	ENSP00000505063.1:p.Thr250LysfsTer9
ENST00000679802.1:c.749del	ENSP00000505184.1:p.Thr250LysfsTer9
ENST00000679854.1:n.1260del
ENST00000679957.1:c.749del	ENSP00000506646.1:p.Thr250LysfsTer9
ENST00000680041.1:c.749del	ENSP00000504866.1:p.Thr250LysfsTer9
ENST00000680783.1:c.749del	ENSP00000506329.1:p.Thr250LysfsTer9
ENST00000681269.1:c.749del	ENSP00000505985.1:p.Thr250LysfsTer9
ENST00000681347.1:n.1260del
ENST00000681514.1:c.749del	ENSP00000505963.1:p.Thr250LysfsTer9
ENST00000681772.1:c.749del	ENSP00000505829.1:p.Thr250LysfsTer9
ENST00000366667.4:c.776del	ENSP00000355627.4:p.Thr259LysfsTer9
NM_000029.3:c.776del	NP_000020.1:p.Thr259LysfsTer9
NM_000029.4:c.776del	NP_000020.1:p.Thr259LysfsTer9
NM_001382817.3:c.749del	NP_001369746.2:p.Thr250LysfsTer9
NM_001384479.1:c.749del MANE Select	NP_001371408.1:p.Thr250LysfsTer9