Canonical Allele Identifier: CA16621037

Gene: TBX1

Linked Data

• ClinVar Variation Id: 421265
• ClinVar RCV Id: RCV000484091
• dbSNP Id: rs1555896828
• MyVariant Identifiers: chr22:g.19754235_19754256dup22 (hg19) ; chr22:g.19766712_19766733dup22 (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766712_19766733dup , CM000684.2:g.19766712_19766733dup	GRCh38
NC_000022.10:g.19754235_19754256dup , CM000684.1:g.19754235_19754256dup	GRCh37
NC_000022.9:g.18134235_18134256dup	NCBI36
NG_009229.1:g.15010_15031dup , LRG_226:g.15010_15031dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000649276.2:c.1360_1381dup MANE Select	ENSP00000497003.1:p.Pro461ArgfsTer?
ENST00000329705.11:c.1009+710_1009+731dup	ENSP00000331176.7:n.1009+710_1009+731dup
ENST00000332710.8:c.1333_1354dup	ENSP00000331791.4:p.Pro452ArgfsTer?
ENST00000359500.7:c.1009+710_1009+731dup	ENSP00000352483.3:n.1009+710_1009+731dup
ENST00000621939.1:c.1009+710_1009+731dup	ENSP00000477982.1:n.1009+710_1009+731dup
NM_005992.1:c.1009+710_1009+731dup	NP_005983.1:n.1009+710_1009+731dup
NM_080646.1:c.1009+710_1009+731dup	NP_542377.1:n.1009+710_1009+731dup
NM_080647.1:c.1333_1354dup , LRG_226t1:c.1333_1354dup	NP_542378.1:p.Pro452ArgfsTer?
XM_006724312.1:c.1333_1354dup	XP_006724375.1:p.Pro452ArgfsTer?
XM_011530351.1:c.1360_1381dup	XP_011528653.1:p.Pro461ArgfsTer?
XM_006724312.2:c.1333_1354dup	XP_006724375.1:p.Pro452ArgfsTer?
XM_017028925.1:c.1483_1504dup	XP_016884414.1:p.Pro502ArgfsTer?
XM_017028926.1:c.1333_1354dup	XP_016884415.1:p.Pro452ArgfsTer?
XM_017028927.1:c.688_709dup	XP_016884416.1:p.Pro237ArgfsTer?
XM_017028928.1:c.1159+710_1159+731dup	XP_016884417.1:n.1159+710_1159+731dup
NM_001379200.1:c.1360_1381dup MANE Select	NP_001366129.1:p.Pro461ArgfsTer?
NM_080646.2:c.1009+710_1009+731dup	NP_542377.1:n.1009+710_1009+731dup