Canonical Allele Identifier: CA2655306645

Gene: TBX1

Linked Data

• gnomAD v4: 22-19766789-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766790del , CM000684.2:g.19766790del	GRCh38
NC_000022.10:g.19754313del , CM000684.1:g.19754313del	GRCh37
NC_000022.9:g.18134313del	NCBI36
NG_009229.1:g.15088del , LRG_226:g.15088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1438del MANE Select	ENSP00000497003.1:p.Ala480GlnfsTer?
ENST00000329705.11:c.1009+788del	ENSP00000331176.7:n.1009+788del
ENST00000332710.8:c.1411del	ENSP00000331791.4:p.Ala471GlnfsTer?
ENST00000359500.7:c.1009+788del	ENSP00000352483.3:n.1009+788del
ENST00000621939.1:c.1009+788del	ENSP00000477982.1:n.1009+788del
NM_005992.1:c.1009+788del	NP_005983.1:n.1009+788del
NM_080646.1:c.1009+788del	NP_542377.1:n.1009+788del
NM_080647.1:c.1411del , LRG_226t1:c.1411del	NP_542378.1:p.Ala471GlnfsTer?
XM_006724312.1:c.1411del	XP_006724375.1:p.Ala471GlnfsTer?
XM_011530351.1:c.1438del	XP_011528653.1:p.Ala480GlnfsTer?
XM_006724312.2:c.1411del	XP_006724375.1:p.Ala471GlnfsTer?
XM_017028925.1:c.1561del	XP_016884414.1:p.Ala521GlnfsTer?
XM_017028926.1:c.1411del	XP_016884415.1:p.Ala471GlnfsTer?
XM_017028927.1:c.766del	XP_016884416.1:p.Ala256GlnfsTer?
XM_017028928.1:c.1159+788del	XP_016884417.1:n.1159+788del
NM_001379200.1:c.1438del MANE Select	NP_001366129.1:p.Ala480GlnfsTer?
NM_080646.2:c.1009+788del	NP_542377.1:n.1009+788del