Canonical Allele Identifier: CA2580099105

Gene: TBX1

Linked Data

• ClinVar Variation Id: 7566
• ClinVar RCV Id: RCV000008002

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766678_19766700del , CM000684.2:g.19766678_19766700del	GRCh38
NC_000022.10:g.19754201_19754223del , CM000684.1:g.19754201_19754223del	GRCh37
NC_000022.9:g.18134201_18134223del	NCBI36
NG_009229.1:g.14976_14998del , LRG_226:g.14976_14998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1326_1348del MANE Select	ENSP00000497003.1:p.Pro444TrpfsTer?
ENST00000329705.11:c.1009+676_1009+698del	ENSP00000331176.7:n.1009+676_1009+698del
ENST00000332710.8:c.1299_1321del	ENSP00000331791.4:p.Pro435TrpfsTer?
ENST00000359500.7:c.1009+676_1009+698del	ENSP00000352483.3:n.1009+676_1009+698del
ENST00000621939.1:c.1009+676_1009+698del	ENSP00000477982.1:n.1009+676_1009+698del
NM_005992.1:c.1009+676_1009+698del	NP_005983.1:n.1009+676_1009+698del
NM_080646.1:c.1009+676_1009+698del	NP_542377.1:n.1009+676_1009+698del
NM_080647.1:c.1299_1321del , LRG_226t1:c.1299_1321del	NP_542378.1:p.Pro435TrpfsTer?
XM_006724312.1:c.1299_1321del	XP_006724375.1:p.Pro435TrpfsTer?
XM_011530351.1:c.1326_1348del	XP_011528653.1:p.Pro444TrpfsTer?
XM_006724312.2:c.1299_1321del	XP_006724375.1:p.Pro435TrpfsTer?
XM_017028925.1:c.1449_1471del	XP_016884414.1:p.Pro485TrpfsTer?
XM_017028926.1:c.1299_1321del	XP_016884415.1:p.Pro435TrpfsTer?
XM_017028927.1:c.654_676del	XP_016884416.1:p.Pro220TrpfsTer?
XM_017028928.1:c.1159+676_1159+698del	XP_016884417.1:n.1159+676_1159+698del
NM_001379200.1:c.1326_1348del MANE Select	NP_001366129.1:p.Pro444TrpfsTer?
NM_080646.2:c.1009+676_1009+698del	NP_542377.1:n.1009+676_1009+698del