Canonical Allele Identifier: CA2580099134

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1968587
• ClinVar RCV Id: RCV002711901
• gnomAD v4: 22-19766834-GCCGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766835_19766840del , CM000684.2:g.19766835_19766840del	GRCh38
NC_000022.10:g.19754358_19754363del , CM000684.1:g.19754358_19754363del	GRCh37
NC_000022.9:g.18134358_18134363del	NCBI36
NG_009229.1:g.15133_15138del , LRG_226:g.15133_15138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1483_1488del MANE Select	ENSP00000497003.1:p.Pro495_Pro496del
ENST00000329705.11:c.1009+833_1009+838del	ENSP00000331176.7:n.1009+833_1009+838del
ENST00000332710.8:c.1456_1461del	ENSP00000331791.4:p.Pro486_Pro487del
ENST00000359500.7:c.1009+833_1009+838del	ENSP00000352483.3:n.1009+833_1009+838del
ENST00000621939.1:c.1009+833_1009+838del	ENSP00000477982.1:n.1009+833_1009+838del
NM_005992.1:c.1009+833_1009+838del	NP_005983.1:n.1009+833_1009+838del
NM_080646.1:c.1009+833_1009+838del	NP_542377.1:n.1009+833_1009+838del
NM_080647.1:c.1456_1461del , LRG_226t1:c.1456_1461del	NP_542378.1:p.Pro486_Pro487del
XM_006724312.1:c.1456_1461del	XP_006724375.1:p.Pro486_Pro487del
XM_011530351.1:c.1483_1488del	XP_011528653.1:p.Pro495_Pro496del
XM_006724312.2:c.1456_1461del	XP_006724375.1:p.Pro486_Pro487del
XM_017028925.1:c.1606_1611del	XP_016884414.1:p.Pro536_Pro537del
XM_017028926.1:c.1456_1461del	XP_016884415.1:p.Pro486_Pro487del
XM_017028927.1:c.811_816del	XP_016884416.1:p.Pro271_Pro272del
XM_017028928.1:c.1159+833_1159+838del	XP_016884417.1:n.1159+833_1159+838del
NM_001379200.1:c.1483_1488del MANE Select	NP_001366129.1:p.Pro495_Pro496del
NM_080646.2:c.1009+833_1009+838del	NP_542377.1:n.1009+833_1009+838del