Canonical Allele Identifier: CA2318945865
Gene: TBXA2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595824_3595847delinsCAGGTGGCCACGCGCAAGTAGATG , CM000681.2:g.3595824_3595847delinsCAGGTGGCCACGCGCAAGTAGATG GRCh38
NC_000019.9:g.3595822_3595845delinsCAGGTGGCCACGCGCAAGTAGATG , CM000681.1:g.3595822_3595845delinsCAGGTGGCCACGCGCAAGTAGATG GRCh37
NC_000019.8:g.3546822_3546845delinsCAGGTGGCCACGCGCAAGTAGATG NCBI36
NG_013363.1:g.15987_16010delinsCATCTACTTGCGCGTGGCCACCTG , LRG_578:g.15987_16010delinsCATCTACTTGCGCGTGGCCACCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG MANE Select ENSP00000364336.4:p.Leu291=
ENST00000375190.8:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG ENSP00000364336.3:p.Leu291=
ENST00000411851.3:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG ENSP00000393333.2:p.Leu291=
ENST00000589966.1:c.484_507delinsCATCTACTTGCGCGTGGCCACCTG ENSP00000468145.1:p.His162=
NM_001060.5:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG , LRG_578t1:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG NP_001051.1:p.Leu291=
NM_201636.2:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG NP_963998.2:p.Leu291=
XM_011528214.1:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG XP_011526516.1:p.Leu291=
XM_011528214.2:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG XP_011526516.1:p.Leu291=
NM_001060.6:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG MANE Select NP_001051.1:p.Leu291=
NM_201636.3:c.873_896delinsCATCTACTTGCGCGTGGCCACCTG NP_963998.2:p.Leu291=