Canonical Allele Identifier: CA2655306512

Gene: TBX1

Linked Data

• gnomAD v4: 22-19766650-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766652del , CM000684.2:g.19766652del	GRCh38
NC_000022.10:g.19754175del , CM000684.1:g.19754175del	GRCh37
NC_000022.9:g.18134175del	NCBI36
NG_009229.1:g.14950del , LRG_226:g.14950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1300del MANE Select	ENSP00000497003.1:p.His434ThrfsTer?
ENST00000329705.11:c.1009+650del	ENSP00000331176.7:n.1009+650del
ENST00000332710.8:c.1273del	ENSP00000331791.4:p.His425ThrfsTer?
ENST00000359500.7:c.1009+650del	ENSP00000352483.3:n.1009+650del
ENST00000621939.1:c.1009+650del	ENSP00000477982.1:n.1009+650del
NM_005992.1:c.1009+650del	NP_005983.1:n.1009+650del
NM_080646.1:c.1009+650del	NP_542377.1:n.1009+650del
NM_080647.1:c.1273del , LRG_226t1:c.1273del	NP_542378.1:p.His425ThrfsTer?
XM_006724312.1:c.1273del	XP_006724375.1:p.His425ThrfsTer?
XM_011530351.1:c.1300del	XP_011528653.1:p.His434ThrfsTer?
XM_006724312.2:c.1273del	XP_006724375.1:p.His425ThrfsTer?
XM_017028925.1:c.1423del	XP_016884414.1:p.His475ThrfsTer?
XM_017028926.1:c.1273del	XP_016884415.1:p.His425ThrfsTer?
XM_017028927.1:c.628del	XP_016884416.1:p.His210ThrfsTer?
XM_017028928.1:c.1159+650del	XP_016884417.1:n.1159+650del
NM_001379200.1:c.1300del MANE Select	NP_001366129.1:p.His434ThrfsTer?
NM_080646.2:c.1009+650del	NP_542377.1:n.1009+650del