Canonical Allele Identifier: CA2499226017

Gene: TBX1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766469del , CM000684.2:g.19766469del	GRCh38
NC_000022.10:g.19753992del , CM000684.1:g.19753992del	GRCh37
NC_000022.9:g.18133992del	NCBI36
NG_009229.1:g.14767del , LRG_226:g.14767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1117del MANE Select	ENSP00000497003.1:p.Leu373CysfsTer6
ENST00000329705.11:c.1009+467del	ENSP00000331176.7:n.1009+467del
ENST00000332710.8:c.1090del	ENSP00000331791.4:p.Leu364CysfsTer6
ENST00000359500.7:c.1009+467del	ENSP00000352483.3:n.1009+467del
ENST00000621939.1:c.1009+467del	ENSP00000477982.1:n.1009+467del
NM_005992.1:c.1009+467del	NP_005983.1:n.1009+467del
NM_080646.1:c.1009+467del	NP_542377.1:n.1009+467del
NM_080647.1:c.1090del , LRG_226t1:c.1090del	NP_542378.1:p.Leu364CysfsTer6
XM_006724312.1:c.1090del	XP_006724375.1:p.Leu364CysfsTer6
XM_011530351.1:c.1117del	XP_011528653.1:p.Leu373CysfsTer6
XM_006724312.2:c.1090del	XP_006724375.1:p.Leu364CysfsTer6
XM_017028925.1:c.1240del	XP_016884414.1:p.Leu414CysfsTer6
XM_017028926.1:c.1090del	XP_016884415.1:p.Leu364CysfsTer6
XM_017028927.1:c.445del	XP_016884416.1:p.Leu149CysfsTer6
XM_017028928.1:c.1159+467del	XP_016884417.1:n.1159+467del
NM_001379200.1:c.1117del MANE Select	NP_001366129.1:p.Leu373CysfsTer6
NM_080646.2:c.1009+467del	NP_542377.1:n.1009+467del