Canonical Allele Identifier: CA2584493783

Gene: TBXA2R

Linked Data

• gnomAD v4: 19-3595543-GATTGGGGTCAACCCAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595545_3595561del , CM000681.2:g.3595545_3595561del	GRCh38
NC_000019.9:g.3595543_3595559del , CM000681.1:g.3595543_3595559del	GRCh37
NC_000019.8:g.3546543_3546559del	NCBI36
NG_013363.1:g.16274_16290del , LRG_578:g.16274_16290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.*128_*144del MANE Select	ENSP00000364336.4:n.*128_*144del
ENST00000375190.8:c.*128_*144del	ENSP00000364336.3:n.*128_*144del
ENST00000411851.3:c.983+177_983+193del	ENSP00000393333.2:n.983+177_983+193del
ENST00000589966.1:c.771_*7del	ENSP00000468145.1:n.[c.771_*7del;Leu258GlnfsTer?]
NM_001060.5:c.*128_*144del , LRG_578t1:c.*128_*144del	NP_001051.1:n.*128_*144del
NM_201636.2:c.983+177_983+193del	NP_963998.2:n.983+177_983+193del
NM_001060.6:c.*128_*144del MANE Select	NP_001051.1:n.*128_*144del
NM_201636.3:c.983+177_983+193del	NP_963998.2:n.983+177_983+193del