Canonical Allele Identifier: CA2655309856

Gene: TBX1

Linked Data

• gnomAD v4: 22-19765041-CGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765045_19765047del , CM000684.2:g.19765045_19765047del	GRCh38
NC_000022.10:g.19752568_19752570del , CM000684.1:g.19752568_19752570del	GRCh37
NC_000022.9:g.18132568_18132570del	NCBI36
NG_009229.1:g.13343_13345del , LRG_226:g.13343_13345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.325_327del	ENSP00000514909.1:p.Glu109del
ENST00000649276.2:c.799_801del MANE Select	ENSP00000497003.1:p.Glu267del
ENST00000329705.11:c.772_774del	ENSP00000331176.7:p.Glu258del
ENST00000332710.8:c.772_774del	ENSP00000331791.4:p.Glu258del
ENST00000359500.7:c.772_774del	ENSP00000352483.3:p.Glu258del
ENST00000621939.1:c.772_774del	ENSP00000477982.1:p.Glu258del
NM_005992.1:c.772_774del	NP_005983.1:p.Glu258del
NM_080646.1:c.772_774del	NP_542377.1:p.Glu258del
NM_080647.1:c.772_774del , LRG_226t1:c.772_774del	NP_542378.1:p.Glu258del
XM_006724312.1:c.772_774del	XP_006724375.1:p.Glu258del
XM_011530351.1:c.799_801del	XP_011528653.1:p.Glu267del
XM_006724312.2:c.772_774del	XP_006724375.1:p.Glu258del
XM_017028925.1:c.922_924del	XP_016884414.1:p.Glu308del
XM_017028926.1:c.772_774del	XP_016884415.1:p.Glu258del
XM_017028927.1:c.73_75del	XP_016884416.1:p.Glu25del
XM_017028928.1:c.922_924del	XP_016884417.1:p.Glu308del
NM_001379200.1:c.799_801del MANE Select	NP_001366129.1:p.Glu267del
NM_080646.2:c.772_774del	NP_542377.1:p.Glu258del