Canonical Allele Identifier: CA2657290

Gene: AGTR1

Linked Data

• dbSNP Id: rs762648315
• ExAC: 3:148459044 CTT / C
• gnomAD v2: 3-148459044-CTT-C
• gnomAD v4: 3-148741257-CTT-C
• MyVariant Identifiers: chr3:g.148459045_148459046del (hg19) ; chr3:g.148741258_148741259del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148741258_148741259del , CM000665.2:g.148741258_148741259del	GRCh38
NC_000003.11:g.148459045_148459046del , CM000665.1:g.148459045_148459046del	GRCh37
NC_000003.10:g.149941735_149941736del	NCBI36
NG_008468.1:g.48388_48389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349243.8:c.223_224del MANE Select	ENSP00000273430.3:p.Leu75MetfsTer27
ENST00000402260.2:c.223_224del	ENSP00000385641.3:p.Leu75MetfsTer27
ENST00000418473.7:c.223_224del	ENSP00000398832.4:p.Leu75MetfsTer27
ENST00000349243.7:c.223_224del	ENSP00000273430.3:p.Leu75MetfsTer27
ENST00000402260.1:c.310_311del	ENSP00000385641.2:p.Leu104MetfsTer27
ENST00000404754.2:c.223_224del	ENSP00000385612.2:p.Leu75MetfsTer27
ENST00000418473.6:c.328_329del	ENSP00000398832.3:p.Leu110MetfsTer27
ENST00000461609.1:c.223_224del	ENSP00000418851.1:p.Leu75MetfsTer27
ENST00000474935.5:c.223_224del	ENSP00000418084.1:p.Leu75MetfsTer27
ENST00000475347.5:c.223_224del	ENSP00000419783.1:p.Leu75MetfsTer27
ENST00000497524.5:c.223_224del	ENSP00000419422.1:p.Leu75MetfsTer27
NM_000685.4:c.223_224del	NP_000676.1:p.Leu75MetfsTer27
NM_004835.4:c.328_329del	NP_004826.5:p.Leu110MetfsTer27
NM_009585.3:c.223_224del	NP_033611.1:p.Leu75MetfsTer27
NM_031850.3:c.328_329del	NP_114038.4:p.Leu110MetfsTer27
NM_032049.3:c.310_311del	NP_114438.2:p.Leu104MetfsTer27
NM_000685.5:c.223_224del MANE Select	NP_000676.1:p.Leu75MetfsTer27
NM_001382736.1:c.223_224del	NP_001369665.1:p.Leu75MetfsTer27
NM_001382737.1:c.223_224del	NP_001369666.1:p.Leu75MetfsTer27
NM_004835.5:c.223_224del	NP_004826.6:p.Leu75MetfsTer27
NM_009585.4:c.223_224del	NP_033611.1:p.Leu75MetfsTer27
NM_031850.4:c.223_224del	NP_114038.5:p.Leu75MetfsTer27
NM_032049.4:c.223_224del	NP_114438.3:p.Leu75MetfsTer27