Canonical Allele Identifier: CA658799491

Gene: TBX1

Linked Data

• ClinVar Variation Id: 504072
• ClinVar RCV Id: RCV000599046 ; RCV002532692 ; RCV002310991
• dbSNP Id: rs746335599
• gnomAD v3: 22-19766765-C-CGCCGCGGCCGCCGCCGCCGCTGCCGCAGCT
• gnomAD v4: 22-19766765-C-CGCCGCGGCCGCCGCCGCCGCTGCCGCAGCT
• MyVariant Identifiers: chr22:g.19754301_19754330dup (hg19) ; chr22:g.19766778_19766807dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766778_19766807dup , CM000684.2:g.19766778_19766807dup	GRCh38
NC_000022.10:g.19754301_19754330dup , CM000684.1:g.19754301_19754330dup	GRCh37
NC_000022.9:g.18134301_18134330dup	NCBI36
NG_009229.1:g.15076_15105dup , LRG_226:g.15076_15105dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1426_1455dup MANE Select	ENSP00000497003.1:p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000329705.11:c.1009+776_1009+805dup	ENSP00000331176.7:n.1009+776_1009+805dup
ENST00000332710.8:c.1399_1428dup	ENSP00000331791.4:p.Ala476_Asn477insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000359500.7:c.1009+776_1009+805dup	ENSP00000352483.3:n.1009+776_1009+805dup
ENST00000621939.1:c.1009+776_1009+805dup	ENSP00000477982.1:n.1009+776_1009+805dup
NM_005992.1:c.1009+776_1009+805dup	NP_005983.1:n.1009+776_1009+805dup
NM_080646.1:c.1009+776_1009+805dup	NP_542377.1:n.1009+776_1009+805dup
NM_080647.1:c.1399_1428dup , LRG_226t1:c.1399_1428dup	NP_542378.1:p.Ala476_Asn477insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
XM_006724312.1:c.1399_1428dup	XP_006724375.1:p.Ala476_Asn477insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
XM_011530351.1:c.1426_1455dup	XP_011528653.1:p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
XM_006724312.2:c.1399_1428dup	XP_006724375.1:p.Ala476_Asn477insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
XM_017028925.1:c.1549_1578dup	XP_016884414.1:p.Ala526_Asn527insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
XM_017028926.1:c.1399_1428dup	XP_016884415.1:p.Ala476_Asn477insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
XM_017028927.1:c.754_783dup	XP_016884416.1:p.Ala261_Asn262insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
XM_017028928.1:c.1159+776_1159+805dup	XP_016884417.1:n.1159+776_1159+805dup
NM_001379200.1:c.1426_1455dup MANE Select	NP_001366129.1:p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_080646.2:c.1009+776_1009+805dup	NP_542377.1:n.1009+776_1009+805dup