Canonical Allele Identifier: CA2396032675

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766953_19766956delinsGAAT , CM000684.2:g.19766953_19766956delinsGAAT	GRCh38
NC_000022.10:g.19754476_19754479delinsGAAT , CM000684.1:g.19754476_19754479delinsGAAT	GRCh37
NC_000022.9:g.18134476_18134479delinsGAAT	NCBI36
NG_009229.1:g.15251_15254delinsGAAT , LRG_226:g.15251_15254delinsGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.*86_*89delinsGAAT MANE Select	ENSP00000497003.1:n.*86_*89delinsGAAT
ENST00000329705.11:c.1009+951_1009+954delinsGAAT	ENSP00000331176.7:n.1009+951_1009+954delinsGAAT
ENST00000332710.8:c.*86_*89delinsGAAT	ENSP00000331791.4:n.*86_*89delinsGAAT
ENST00000359500.7:c.1009+951_1009+954delinsGAAT	ENSP00000352483.3:n.1009+951_1009+954delinsGAAT
ENST00000621939.1:c.1009+951_1009+954delinsGAAT	ENSP00000477982.1:n.1009+951_1009+954delinsGAAT
NM_005992.1:c.1009+951_1009+954delinsGAAT	NP_005983.1:n.1009+951_1009+954delinsGAAT
NM_080646.1:c.1009+951_1009+954delinsGAAT	NP_542377.1:n.1009+951_1009+954delinsGAAT
NM_080647.1:c.*86_*89delinsGAAT , LRG_226t1:c.*86_*89delinsGAAT	NP_542378.1:n.*86_*89delinsGAAT
XM_006724312.1:c.*86_*89delinsGAAT	XP_006724375.1:n.*86_*89delinsGAAT
XM_011530351.1:c.*86_*89delinsGAAT	XP_011528653.1:n.*86_*89delinsGAAT
XM_006724312.2:c.*86_*89delinsGAAT	XP_006724375.1:n.*86_*89delinsGAAT
XM_017028925.1:c.*86_*89delinsGAAT	XP_016884414.1:n.*86_*89delinsGAAT
XM_017028926.1:c.*86_*89delinsGAAT	XP_016884415.1:n.*86_*89delinsGAAT
XM_017028927.1:c.*86_*89delinsGAAT	XP_016884416.1:n.*86_*89delinsGAAT
XM_017028928.1:c.1159+951_1159+954delinsGAAT	XP_016884417.1:n.1159+951_1159+954delinsGAAT
NM_001379200.1:c.*86_*89delinsGAAT MANE Select	NP_001366129.1:n.*86_*89delinsGAAT
NM_080646.2:c.1009+951_1009+954delinsGAAT	NP_542377.1:n.1009+951_1009+954delinsGAAT