Canonical Allele Identifier: CA2584493818

Gene: TBXA2R

Linked Data

• gnomAD v4: 19-3595702-AGCGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595706_3595710del , CM000681.2:g.3595706_3595710del	GRCh38
NC_000019.9:g.3595704_3595708del , CM000681.1:g.3595704_3595708del	GRCh37
NC_000019.8:g.3546704_3546708del	NCBI36
NG_013363.1:g.16127_16131del , LRG_578:g.16127_16131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.1013_1017del MANE Select	ENSP00000364336.4:p.Gln338LeufsTer?
ENST00000375190.8:c.1013_1017del	ENSP00000364336.3:p.Gln338LeufsTer?
ENST00000411851.3:c.983+30_983+34del	ENSP00000393333.2:n.983+30_983+34del
ENST00000589966.1:c.624_628del	ENSP00000468145.1:p.Ala209ProfsTer?
NM_001060.5:c.1013_1017del , LRG_578t1:c.1013_1017del	NP_001051.1:p.Gln338LeufsTer?
NM_201636.2:c.983+30_983+34del	NP_963998.2:n.983+30_983+34del
XM_011528214.1:c.1013_1017del	XP_011526516.1:p.Gln338LeufsTer?
XM_011528214.2:c.1013_1017del	XP_011526516.1:p.Gln338LeufsTer?
NM_001060.6:c.1013_1017del MANE Select	NP_001051.1:p.Gln338LeufsTer?
NM_201636.3:c.983+30_983+34del	NP_963998.2:n.983+30_983+34del