Canonical Allele Identifier: CA992743728

Gene: TBXA2R

Linked Data

• gnomAD v3: 19-3595796-A-ACACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATG
• gnomAD v4: 19-3595796-A-ACACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595796_3595797insCACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATG , CM000681.2:g.3595796_3595797insCACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATG	GRCh38
NC_000019.9:g.3595794_3595795insCACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATG , CM000681.1:g.3595794_3595795insCACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATG	GRCh37
NC_000019.8:g.3546794_3546795insCACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATG	NCBI36
NG_013363.1:g.16037_16038insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG , LRG_578:g.16037_16038insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG MANE Select	ENSP00000364336.4:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlyS...
ENST00000375190.8:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG	ENSP00000364336.3:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlyS...
ENST00000411851.3:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG	ENSP00000393333.2:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlyS...
ENST00000589966.1:c.534_535insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG	ENSP00000468145.1:p.Val178_Tyr179insHisProValProGlnGlySerArgI...
NM_001060.5:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG , LRG_578t1:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG	NP_001051.1:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerGlyS...
NM_201636.2:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG	NP_963998.2:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerGlyS...
XM_011528214.1:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG	XP_011526516.1:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerG...
XM_011528214.2:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG	XP_011526516.1:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerG...
NM_001060.6:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG MANE Select	NP_001051.1:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerGlyS...
NM_201636.3:c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG	NP_963998.2:p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerGlyS...