Canonical Allele Identifier: CA2695230378

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766653_19766660del , CM000684.2:g.19766653_19766660del	GRCh38
NC_000022.10:g.19754176_19754183del , CM000684.1:g.19754176_19754183del	GRCh37
NC_000022.9:g.18134176_18134183del	NCBI36
NG_009229.1:g.14951_14958del , LRG_226:g.14951_14958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1301_1308del MANE Select	ENSP00000497003.1:p.His434ArgfsTer?
ENST00000329705.11:c.1009+651_1009+658del	ENSP00000331176.7:n.1009+651_1009+658del
ENST00000332710.8:c.1274_1281del	ENSP00000331791.4:p.His425ArgfsTer?
ENST00000359500.7:c.1009+651_1009+658del	ENSP00000352483.3:n.1009+651_1009+658del
ENST00000621939.1:c.1009+651_1009+658del	ENSP00000477982.1:n.1009+651_1009+658del
NM_005992.1:c.1009+651_1009+658del	NP_005983.1:n.1009+651_1009+658del
NM_080646.1:c.1009+651_1009+658del	NP_542377.1:n.1009+651_1009+658del
NM_080647.1:c.1274_1281del , LRG_226t1:c.1274_1281del	NP_542378.1:p.His425ArgfsTer?
XM_006724312.1:c.1274_1281del	XP_006724375.1:p.His425ArgfsTer?
XM_011530351.1:c.1301_1308del	XP_011528653.1:p.His434ArgfsTer?
XM_006724312.2:c.1274_1281del	XP_006724375.1:p.His425ArgfsTer?
XM_017028925.1:c.1424_1431del	XP_016884414.1:p.His475ArgfsTer?
XM_017028926.1:c.1274_1281del	XP_016884415.1:p.His425ArgfsTer?
XM_017028927.1:c.629_636del	XP_016884416.1:p.His210ArgfsTer?
XM_017028928.1:c.1159+651_1159+658del	XP_016884417.1:n.1159+651_1159+658del
NM_001379200.1:c.1301_1308del MANE Select	NP_001366129.1:p.His434ArgfsTer?
NM_080646.2:c.1009+651_1009+658del	NP_542377.1:n.1009+651_1009+658del