Canonical Allele Identifier: CA2655306513

Gene: TBX1

Linked Data

• gnomAD v4: 22-19766660-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766664del , CM000684.2:g.19766664del	GRCh38
NC_000022.10:g.19754187del , CM000684.1:g.19754187del	GRCh37
NC_000022.9:g.18134187del	NCBI36
NG_009229.1:g.14962del , LRG_226:g.14962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1312del MANE Select	ENSP00000497003.1:p.Ala438ProfsTer?
ENST00000329705.11:c.1009+662del	ENSP00000331176.7:n.1009+662del
ENST00000332710.8:c.1285del	ENSP00000331791.4:p.Ala429ProfsTer?
ENST00000359500.7:c.1009+662del	ENSP00000352483.3:n.1009+662del
ENST00000621939.1:c.1009+662del	ENSP00000477982.1:n.1009+662del
NM_005992.1:c.1009+662del	NP_005983.1:n.1009+662del
NM_080646.1:c.1009+662del	NP_542377.1:n.1009+662del
NM_080647.1:c.1285del , LRG_226t1:c.1285del	NP_542378.1:p.Ala429ProfsTer?
XM_006724312.1:c.1285del	XP_006724375.1:p.Ala429ProfsTer?
XM_011530351.1:c.1312del	XP_011528653.1:p.Ala438ProfsTer?
XM_006724312.2:c.1285del	XP_006724375.1:p.Ala429ProfsTer?
XM_017028925.1:c.1435del	XP_016884414.1:p.Ala479ProfsTer?
XM_017028926.1:c.1285del	XP_016884415.1:p.Ala429ProfsTer?
XM_017028927.1:c.640del	XP_016884416.1:p.Ala214ProfsTer?
XM_017028928.1:c.1159+662del	XP_016884417.1:n.1159+662del
NM_001379200.1:c.1312del MANE Select	NP_001366129.1:p.Ala438ProfsTer?
NM_080646.2:c.1009+662del	NP_542377.1:n.1009+662del