Canonical Allele Identifier: CA2584493759
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595520-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595522del , CM000681.2:g.3595522del GRCh38
NC_000019.9:g.3595520del , CM000681.1:g.3595520del GRCh37
NC_000019.8:g.3546520del NCBI36
NG_013363.1:g.16313del , LRG_578:g.16313del
NG_031943.1:g.14952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*167del MANE Select ENSP00000364336.4:n.*167del
ENST00000375190.8:c.*167del ENSP00000364336.3:n.*167del
ENST00000411851.3:c.983+216del ENSP00000393333.2:n.983+216del
ENST00000589966.1:c.*30del ENSP00000468145.1:n.*30del
NM_001060.5:c.*167del , LRG_578t1:c.*167del NP_001051.1:n.*167del
NM_201636.2:c.983+216del NP_963998.2:n.983+216del
NM_001060.6:c.*167del MANE Select NP_001051.1:n.*167del
NM_201636.3:c.983+216del NP_963998.2:n.983+216del
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