Canonical Allele Identifier: CA2396032443

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766652_19766655delinsCACT , CM000684.2:g.19766652_19766655delinsCACT	GRCh38
NC_000022.10:g.19754175_19754178delinsCACT , CM000684.1:g.19754175_19754178delinsCACT	GRCh37
NC_000022.9:g.18134175_18134178delinsCACT	NCBI36
NG_009229.1:g.14950_14953delinsCACT , LRG_226:g.14950_14953delinsCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1300_1303delinsCACT MANE Select	ENSP00000497003.1:p.His434=
ENST00000329705.11:c.1009+650_1009+653delinsCACT	ENSP00000331176.7:n.1009+650_1009+653delinsCACT
ENST00000332710.8:c.1273_1276delinsCACT	ENSP00000331791.4:p.His425=
ENST00000359500.7:c.1009+650_1009+653delinsCACT	ENSP00000352483.3:n.1009+650_1009+653delinsCACT
ENST00000621939.1:c.1009+650_1009+653delinsCACT	ENSP00000477982.1:n.1009+650_1009+653delinsCACT
NM_005992.1:c.1009+650_1009+653delinsCACT	NP_005983.1:n.1009+650_1009+653delinsCACT
NM_080646.1:c.1009+650_1009+653delinsCACT	NP_542377.1:n.1009+650_1009+653delinsCACT
NM_080647.1:c.1273_1276delinsCACT , LRG_226t1:c.1273_1276delinsCACT	NP_542378.1:p.His425=
XM_006724312.1:c.1273_1276delinsCACT	XP_006724375.1:p.His425=
XM_011530351.1:c.1300_1303delinsCACT	XP_011528653.1:p.His434=
XM_006724312.2:c.1273_1276delinsCACT	XP_006724375.1:p.His425=
XM_017028925.1:c.1423_1426delinsCACT	XP_016884414.1:p.His475=
XM_017028926.1:c.1273_1276delinsCACT	XP_016884415.1:p.His425=
XM_017028927.1:c.628_631delinsCACT	XP_016884416.1:p.His210=
XM_017028928.1:c.1159+650_1159+653delinsCACT	XP_016884417.1:n.1159+650_1159+653delinsCACT
NM_001379200.1:c.1300_1303delinsCACT MANE Select	NP_001366129.1:p.His434=
NM_080646.2:c.1009+650_1009+653delinsCACT	NP_542377.1:n.1009+650_1009+653delinsCACT