Canonical Allele Identifier: CA2655307009

Gene: TBX1

Linked Data

• gnomAD v4: 22-19767030-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19767035dup , CM000684.2:g.19767035dup	GRCh38
NC_000022.10:g.19754558dup , CM000684.1:g.19754558dup	GRCh37
NC_000022.9:g.18134558dup	NCBI36
NG_009229.1:g.15333dup , LRG_226:g.15333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.*168dup MANE Select	ENSP00000497003.1:n.*168dup
ENST00000329705.11:c.1009+1033dup	ENSP00000331176.7:n.1009+1033dup
ENST00000332710.8:c.*168dup	ENSP00000331791.4:n.*168dup
ENST00000359500.7:c.1009+1033dup	ENSP00000352483.3:n.1009+1033dup
ENST00000621939.1:c.1009+1033dup	ENSP00000477982.1:n.1009+1033dup
NM_005992.1:c.1009+1033dup	NP_005983.1:n.1009+1033dup
NM_080646.1:c.1009+1033dup	NP_542377.1:n.1009+1033dup
NM_080647.1:c.*168dup , LRG_226t1:c.*168dup	NP_542378.1:n.*168dup
XM_006724312.1:c.*168dup	XP_006724375.1:n.*168dup
XM_011530351.1:c.*168dup	XP_011528653.1:n.*168dup
XM_006724312.2:c.*168dup	XP_006724375.1:n.*168dup
XM_017028925.1:c.*168dup	XP_016884414.1:n.*168dup
XM_017028926.1:c.*168dup	XP_016884415.1:n.*168dup
XM_017028927.1:c.*168dup	XP_016884416.1:n.*168dup
XM_017028928.1:c.1159+1033dup	XP_016884417.1:n.1159+1033dup
NM_001379200.1:c.*168dup MANE Select	NP_001366129.1:n.*168dup
NM_080646.2:c.1009+1033dup	NP_542377.1:n.1009+1033dup