Canonical Allele Identifier: CA10102732

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1059966
• ClinVar RCV Id: RCV001369334
• dbSNP Id: rs753713234
• ExAC: 22:19754258 GCAC / G
• gnomAD v2: 22-19754258-GCAC-G
• gnomAD v3: 22-19766735-GCAC-G
• gnomAD v4: 22-19766735-GCAC-G
• MyVariant Identifiers: chr22:g.19754262_19754264del (hg19) ; chr22:g.19754259_19754261del (hg19) ; chr22:g.19766737_19766739del (hg38) ; chr22:g.19766736_19766738del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766749_19766751del , CM000684.2:g.19766749_19766751del	GRCh38
NC_000022.10:g.19754272_19754274del , CM000684.1:g.19754272_19754274del	GRCh37
NC_000022.9:g.18134272_18134274del	NCBI36
NG_009229.1:g.15047_15049del , LRG_226:g.15047_15049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000649276.2:c.1397_1399del MANE Select	ENSP00000497003.1:p.His466del
ENST00000329705.11:c.1009+747_1009+749del	ENSP00000331176.7:n.1009+747_1009+749del
ENST00000332710.8:c.1370_1372del	ENSP00000331791.4:p.His457del
ENST00000359500.7:c.1009+747_1009+749del	ENSP00000352483.3:n.1009+747_1009+749del
ENST00000621939.1:c.1009+747_1009+749del	ENSP00000477982.1:n.1009+747_1009+749del
NM_005992.1:c.1009+747_1009+749del	NP_005983.1:n.1009+747_1009+749del
NM_080646.1:c.1009+747_1009+749del	NP_542377.1:n.1009+747_1009+749del
NM_080647.1:c.1370_1372del , LRG_226t1:c.1370_1372del	NP_542378.1:p.His457del
XM_006724312.1:c.1370_1372del	XP_006724375.1:p.His457del
XM_011530351.1:c.1397_1399del	XP_011528653.1:p.His466del
XM_006724312.2:c.1370_1372del	XP_006724375.1:p.His457del
XM_017028925.1:c.1520_1522del	XP_016884414.1:p.His507del
XM_017028926.1:c.1370_1372del	XP_016884415.1:p.His457del
XM_017028927.1:c.725_727del	XP_016884416.1:p.His242del
XM_017028928.1:c.1159+747_1159+749del	XP_016884417.1:n.1159+747_1159+749del
NM_001379200.1:c.1397_1399del MANE Select	NP_001366129.1:p.His466del
NM_080646.2:c.1009+747_1009+749del	NP_542377.1:n.1009+747_1009+749del