Canonical Allele Identifier: CA920336490

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2719319
• ClinVar RCV Id: RCV003508427
• dbSNP Id: rs1555896830
• gnomAD v3: 22-19766712-G-GGCTACCACCCGCACGCGCATCCGC
• gnomAD v4: 22-19766712-G-GGCTACCACCCGCACGCGCATCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766713_19766736dup , CM000684.2:g.19766713_19766736dup	GRCh38
NC_000022.10:g.19754236_19754259dup , CM000684.1:g.19754236_19754259dup	GRCh37
NC_000022.9:g.18134236_18134259dup	NCBI36
NG_009229.1:g.15011_15034dup , LRG_226:g.15011_15034dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000649276.2:c.1361_1384dup MANE Select	ENSP00000497003.1:p.Pro461_His462insArgTy...
ENST00000329705.11:c.1009+711_1009+734dup	ENSP00000331176.7:n.1009+711_1009+734dup
ENST00000332710.8:c.1334_1357dup	ENSP00000331791.4:p.Pro452_His453insArgTy...
ENST00000359500.7:c.1009+711_1009+734dup	ENSP00000352483.3:n.1009+711_1009+734dup
ENST00000621939.1:c.1009+711_1009+734dup	ENSP00000477982.1:n.1009+711_1009+734dup
NM_005992.1:c.1009+711_1009+734dup	NP_005983.1:n.1009+711_1009+734dup
NM_080646.1:c.1009+711_1009+734dup	NP_542377.1:n.1009+711_1009+734dup
NM_080647.1:c.1334_1357dup , LRG_226t1:c.1334_1357dup	NP_542378.1:p.Pro452_His453insArgTyrHisPr...
XM_006724312.1:c.1334_1357dup	XP_006724375.1:p.Pro452_His453insArgTyrHi...
XM_011530351.1:c.1361_1384dup	XP_011528653.1:p.Pro461_His462insArgTyrHi...
XM_006724312.2:c.1334_1357dup	XP_006724375.1:p.Pro452_His453insArgTyrHi...
XM_017028925.1:c.1484_1507dup	XP_016884414.1:p.Pro502_His503insArgTyrHi...
XM_017028926.1:c.1334_1357dup	XP_016884415.1:p.Pro452_His453insArgTyrHi...
XM_017028927.1:c.689_712dup	XP_016884416.1:p.Pro237_His238insArgTyrHi...
XM_017028928.1:c.1159+711_1159+734dup	XP_016884417.1:n.1159+711_1159+734dup
NM_001379200.1:c.1361_1384dup MANE Select	NP_001366129.1:p.Pro461_His462insArgTyrHi...
NM_080646.2:c.1009+711_1009+734dup	NP_542377.1:n.1009+711_1009+734dup