Canonical Allele Identifier: CA900489709

Gene: AGTR1

Linked Data

• ClinVar Variation Id: 1685512
• ClinVar RCV Id: RCV002249239
• dbSNP Id: rs1380295297
• gnomAD v4: 3-148741263-CT-C
• MyVariant Identifiers: chr3:g.148459051del (hg19) ; chr3:g.148741264del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148741268del , CM000665.2:g.148741268del	GRCh38
NC_000003.11:g.148459055del , CM000665.1:g.148459055del	GRCh37
NC_000003.10:g.149941745del	NCBI36
NG_008468.1:g.48398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349243.8:c.233del MANE Select	ENSP00000273430.3:p.Leu78TyrfsTer2
ENST00000402260.2:c.233del	ENSP00000385641.3:p.Leu78TyrfsTer2
ENST00000418473.7:c.233del	ENSP00000398832.4:p.Leu78TyrfsTer2
ENST00000349243.7:c.233del	ENSP00000273430.3:p.Leu78TyrfsTer2
ENST00000402260.1:c.320del	ENSP00000385641.2:p.Leu107TyrfsTer2
ENST00000404754.2:c.233del	ENSP00000385612.2:p.Leu78TyrfsTer2
ENST00000418473.6:c.338del	ENSP00000398832.3:p.Leu113TyrfsTer2
ENST00000461609.1:c.233del	ENSP00000418851.1:p.Leu78TyrfsTer2
ENST00000474935.5:c.233del	ENSP00000418084.1:p.Leu78TyrfsTer2
ENST00000475347.5:c.233del	ENSP00000419783.1:p.Leu78TyrfsTer2
ENST00000497524.5:c.233del	ENSP00000419422.1:p.Leu78TyrfsTer2
NM_000685.4:c.233del	NP_000676.1:p.Leu78TyrfsTer2
NM_004835.4:c.338del	NP_004826.5:p.Leu113TyrfsTer2
NM_009585.3:c.233del	NP_033611.1:p.Leu78TyrfsTer2
NM_031850.3:c.338del	NP_114038.4:p.Leu113TyrfsTer2
NM_032049.3:c.320del	NP_114438.2:p.Leu107TyrfsTer2
NM_000685.5:c.233del MANE Select	NP_000676.1:p.Leu78TyrfsTer2
NM_001382736.1:c.233del	NP_001369665.1:p.Leu78TyrfsTer2
NM_001382737.1:c.233del	NP_001369666.1:p.Leu78TyrfsTer2
NM_004835.5:c.233del	NP_004826.6:p.Leu78TyrfsTer2
NM_009585.4:c.233del	NP_033611.1:p.Leu78TyrfsTer2
NM_031850.4:c.233del	NP_114038.5:p.Leu78TyrfsTer2
NM_032049.4:c.233del	NP_114438.3:p.Leu78TyrfsTer2