Canonical Allele Identifier: CA1448273

Gene: AGT

Linked Data

• dbSNP Id: rs758918817
• ExAC: 1:230845990 GCTGGGCCTGGCTATCAGCCCTGCC / G
• gnomAD v2: 1-230845990-GCTGGGCCTGGCTATCAGCCCTGCC-G
• gnomAD v4: 1-230710244-GCTGGGCCTGGCTATCAGCCCTGCC-G
• MyVariant Identifiers: chr1:g.230845991_230846014del (hg19) ; chr1:g.230710245_230710268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230710252_230710275del , CM000663.2:g.230710252_230710275del	GRCh38
NC_000001.10:g.230845998_230846021del , CM000663.1:g.230845998_230846021del	GRCh37
NC_000001.9:g.228912621_228912644del	NCBI36
NG_008836.1:g.9323_9346del
NG_008836.2:g.9323_9346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.556_579del MANE Select	ENSP00000355627.5:p.Gly186_Gln193del
ENST00000679684.1:c.556_579del	ENSP00000505981.1:p.Gly186_Gln193del
ENST00000679738.1:c.556_579del	ENSP00000505063.1:p.Gly186_Gln193del
ENST00000679802.1:c.556_579del	ENSP00000505184.1:p.Gly186_Gln193del
ENST00000679854.1:n.1067_1090del
ENST00000679957.1:c.556_579del	ENSP00000506646.1:p.Gly186_Gln193del
ENST00000680041.1:c.556_579del	ENSP00000504866.1:p.Gly186_Gln193del
ENST00000680783.1:c.556_579del	ENSP00000506329.1:p.Gly186_Gln193del
ENST00000681269.1:c.556_579del	ENSP00000505985.1:p.Gly186_Gln193del
ENST00000681347.1:n.1067_1090del
ENST00000681514.1:c.556_579del	ENSP00000505963.1:p.Gly186_Gln193del
ENST00000681772.1:c.556_579del	ENSP00000505829.1:p.Gly186_Gln193del
ENST00000366667.4:c.583_606del	ENSP00000355627.4:p.Gly195_Gln202del
NM_000029.3:c.583_606del	NP_000020.1:p.Gly195_Gln202del
NM_000029.4:c.583_606del	NP_000020.1:p.Gly195_Gln202del
NM_001382817.3:c.556_579del	NP_001369746.2:p.Gly186_Gln193del
NM_001384479.1:c.556_579del MANE Select	NP_001371408.1:p.Gly186_Gln193del