Canonical Allele Identifier: CA2655306525

Gene: TBX1

Linked Data

• gnomAD v4: 22-19766740-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766742del , CM000684.2:g.19766742del	GRCh38
NC_000022.10:g.19754265del , CM000684.1:g.19754265del	GRCh37
NC_000022.9:g.18134265del	NCBI36
NG_009229.1:g.15040del , LRG_226:g.15040del

Transcript Alleles

HGVS	Amino-acid change
ENST00000649276.2:c.1390del MANE Select	ENSP00000497003.1:p.His464ThrfsTer5
ENST00000329705.11:c.1009+740del	ENSP00000331176.7:n.1009+740del
ENST00000332710.8:c.1363del	ENSP00000331791.4:p.His455ThrfsTer5
ENST00000359500.7:c.1009+740del	ENSP00000352483.3:n.1009+740del
ENST00000621939.1:c.1009+740del	ENSP00000477982.1:n.1009+740del
NM_005992.1:c.1009+740del	NP_005983.1:n.1009+740del
NM_080646.1:c.1009+740del	NP_542377.1:n.1009+740del
NM_080647.1:c.1363del , LRG_226t1:c.1363del	NP_542378.1:p.His455ThrfsTer5
XM_006724312.1:c.1363del	XP_006724375.1:p.His455ThrfsTer5
XM_011530351.1:c.1390del	XP_011528653.1:p.His464ThrfsTer5
XM_006724312.2:c.1363del	XP_006724375.1:p.His455ThrfsTer5
XM_017028925.1:c.1513del	XP_016884414.1:p.His505ThrfsTer5
XM_017028926.1:c.1363del	XP_016884415.1:p.His455ThrfsTer5
XM_017028927.1:c.718del	XP_016884416.1:p.His240ThrfsTer5
XM_017028928.1:c.1159+740del	XP_016884417.1:n.1159+740del
NM_001379200.1:c.1390del MANE Select	NP_001366129.1:p.His464ThrfsTer5
NM_080646.2:c.1009+740del	NP_542377.1:n.1009+740del