Canonical Allele Identifier: CA10102733

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2016762
• ClinVar RCV Id: RCV002851739
• dbSNP Id: rs753713234
• ExAC: 22:19754258 G / GCAC
• gnomAD v2: 22-19754258-G-GCAC
• gnomAD v3: 22-19766735-G-GCAC
• gnomAD v4: 22-19766735-G-GCAC
• MyVariant Identifiers: chr22:g.19754264_19754265insCAC (hg19) ; chr22:g.19754258_19754259insCAC (hg19) ; chr22:g.19766735_19766736insCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766749_19766751dup , CM000684.2:g.19766749_19766751dup	GRCh38
NC_000022.10:g.19754272_19754274dup , CM000684.1:g.19754272_19754274dup	GRCh37
NC_000022.9:g.18134272_18134274dup	NCBI36
NG_009229.1:g.15047_15049dup , LRG_226:g.15047_15049dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000649276.2:c.1397_1399dup MANE Select	ENSP00000497003.1:p.His466_Pro467insHis
ENST00000329705.11:c.1009+747_1009+749dup	ENSP00000331176.7:n.1009+747_1009+749dup
ENST00000332710.8:c.1370_1372dup	ENSP00000331791.4:p.His457_Pro458insHis
ENST00000359500.7:c.1009+747_1009+749dup	ENSP00000352483.3:n.1009+747_1009+749dup
ENST00000621939.1:c.1009+747_1009+749dup	ENSP00000477982.1:n.1009+747_1009+749dup
NM_005992.1:c.1009+747_1009+749dup	NP_005983.1:n.1009+747_1009+749dup
NM_080646.1:c.1009+747_1009+749dup	NP_542377.1:n.1009+747_1009+749dup
NM_080647.1:c.1370_1372dup , LRG_226t1:c.1370_1372dup	NP_542378.1:p.His457_Pro458insHis
XM_006724312.1:c.1370_1372dup	XP_006724375.1:p.His457_Pro458insHis
XM_011530351.1:c.1397_1399dup	XP_011528653.1:p.His466_Pro467insHis
XM_006724312.2:c.1370_1372dup	XP_006724375.1:p.His457_Pro458insHis
XM_017028925.1:c.1520_1522dup	XP_016884414.1:p.His507_Pro508insHis
XM_017028926.1:c.1370_1372dup	XP_016884415.1:p.His457_Pro458insHis
XM_017028927.1:c.725_727dup	XP_016884416.1:p.His242_Pro243insHis
XM_017028928.1:c.1159+747_1159+749dup	XP_016884417.1:n.1159+747_1159+749dup
NM_001379200.1:c.1397_1399dup MANE Select	NP_001366129.1:p.His466_Pro467insHis
NM_080646.2:c.1009+747_1009+749dup	NP_542377.1:n.1009+747_1009+749dup