Canonical Allele Identifier: CA2573131766

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1402928
• ClinVar RCV Id: RCV001908785
• dbSNP Id: rs2145835194

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765040_19765044dup , CM000684.2:g.19765040_19765044dup	GRCh38
NC_000022.10:g.19752563_19752567dup , CM000684.1:g.19752563_19752567dup	GRCh37
NC_000022.9:g.18132563_18132567dup	NCBI36
NG_009229.1:g.13338_13342dup , LRG_226:g.13338_13342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.320_324dup	ENSP00000514909.1:p.Glu109ProfsTer?
ENST00000649276.2:c.794_798dup MANE Select	ENSP00000497003.1:p.Glu267ProfsTer?
ENST00000329705.11:c.767_771dup	ENSP00000331176.7:p.Glu258ProfsTer?
ENST00000332710.8:c.767_771dup	ENSP00000331791.4:p.Glu258ProfsTer?
ENST00000359500.7:c.767_771dup	ENSP00000352483.3:p.Glu258ProfsTer?
ENST00000621939.1:c.767_771dup	ENSP00000477982.1:p.Glu258ProfsTer?
NM_005992.1:c.767_771dup	NP_005983.1:p.Glu258ProfsTer?
NM_080646.1:c.767_771dup	NP_542377.1:p.Glu258ProfsTer?
NM_080647.1:c.767_771dup , LRG_226t1:c.767_771dup	NP_542378.1:p.Glu258ProfsTer?
XM_006724312.1:c.767_771dup	XP_006724375.1:p.Glu258ProfsTer?
XM_011530351.1:c.794_798dup	XP_011528653.1:p.Glu267ProfsTer?
XM_006724312.2:c.767_771dup	XP_006724375.1:p.Glu258ProfsTer?
XM_017028925.1:c.917_921dup	XP_016884414.1:p.Glu308ProfsTer?
XM_017028926.1:c.767_771dup	XP_016884415.1:p.Glu258ProfsTer?
XM_017028927.1:c.68_72dup	XP_016884416.1:p.Glu25ProfsTer26
XM_017028928.1:c.917_921dup	XP_016884417.1:p.Glu308ProfsTer?
NM_001379200.1:c.794_798dup MANE Select	NP_001366129.1:p.Glu267ProfsTer?
NM_080646.2:c.767_771dup	NP_542377.1:p.Glu258ProfsTer?