Canonical Allele Identifier: CA2573050688

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766701_19766709del , CM000684.2:g.19766701_19766709del	GRCh38
NC_000022.10:g.19754224_19754232del , CM000684.1:g.19754224_19754232del	GRCh37
NC_000022.9:g.18134224_18134232del	NCBI36
NG_009229.1:g.14999_15007del , LRG_226:g.14999_15007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1349_1357del MANE Select	ENSP00000497003.1:p.Leu450_Gly452del
ENST00000329705.11:c.1009+699_1009+707del	ENSP00000331176.7:n.1009+699_1009+707del
ENST00000332710.8:c.1322_1330del	ENSP00000331791.4:p.Leu441_Gly443del
ENST00000359500.7:c.1009+699_1009+707del	ENSP00000352483.3:n.1009+699_1009+707del
ENST00000621939.1:c.1009+699_1009+707del	ENSP00000477982.1:n.1009+699_1009+707del
NM_005992.1:c.1009+699_1009+707del	NP_005983.1:n.1009+699_1009+707del
NM_080646.1:c.1009+699_1009+707del	NP_542377.1:n.1009+699_1009+707del
NM_080647.1:c.1322_1330del , LRG_226t1:c.1322_1330del	NP_542378.1:p.Leu441_Gly443del
XM_006724312.1:c.1322_1330del	XP_006724375.1:p.Leu441_Gly443del
XM_011530351.1:c.1349_1357del	XP_011528653.1:p.Leu450_Gly452del
XM_006724312.2:c.1322_1330del	XP_006724375.1:p.Leu441_Gly443del
XM_017028925.1:c.1472_1480del	XP_016884414.1:p.Leu491_Gly493del
XM_017028926.1:c.1322_1330del	XP_016884415.1:p.Leu441_Gly443del
XM_017028927.1:c.677_685del	XP_016884416.1:p.Leu226_Gly228del
XM_017028928.1:c.1159+699_1159+707del	XP_016884417.1:n.1159+699_1159+707del
NM_001379200.1:c.1349_1357del MANE Select	NP_001366129.1:p.Leu450_Gly452del
NM_080646.2:c.1009+699_1009+707del	NP_542377.1:n.1009+699_1009+707del