Canonical Allele Identifier: CA2950943394

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766523_19766533del , CM000684.2:g.19766523_19766533del	GRCh38
NC_000022.10:g.19754046_19754056del , CM000684.1:g.19754046_19754056del	GRCh37
NC_000022.9:g.18134046_18134056del	NCBI36
NG_009229.1:g.14821_14831del , LRG_226:g.14821_14831del

Transcript Alleles

HGVS	Amino-acid Change
NM_001379200.1:c.1171_1181del MANE Select	NP_001366129.1:p.Leu391AlafsTer?
ENST00000649276.2:c.1171_1181del MANE Select	ENSP00000497003.1:p.Leu391AlafsTer?
NM_005992.1:c.1009+521_1009+531del	NP_005983.1:n.1009+521_1009+531del
NM_080646.1:c.1009+521_1009+531del	NP_542377.1:n.1009+521_1009+531del
NM_080646.2:c.1009+521_1009+531del	NP_542377.1:n.1009+521_1009+531del
NM_080647.1:c.1144_1154del , LRG_226t1:c.1144_1154del	NP_542378.1:p.Leu382AlafsTer?
ENST00000329705.11:c.1009+521_1009+531del	ENSP00000331176.7:n.1009+521_1009+531del
ENST00000332710.8:c.1144_1154del	ENSP00000331791.4:p.Leu382AlafsTer?
ENST00000359500.7:c.1009+521_1009+531del	ENSP00000352483.3:n.1009+521_1009+531del
ENST00000621939.1:c.1009+521_1009+531del	ENSP00000477982.1:n.1009+521_1009+531del
XM_006724312.1:c.1144_1154del	XP_006724375.1:p.Leu382AlafsTer?
XM_006724312.2:c.1144_1154del	XP_006724375.1:p.Leu382AlafsTer?
XM_011530351.1:c.1171_1181del	XP_011528653.1:p.Leu391AlafsTer?
XM_017028925.1:c.1294_1304del	XP_016884414.1:p.Leu432AlafsTer?
XM_017028926.1:c.1144_1154del	XP_016884415.1:p.Leu382AlafsTer?
XM_017028927.1:c.499_509del	XP_016884416.1:p.Leu167AlafsTer?
XM_017028928.1:c.1159+521_1159+531del	XP_016884417.1:n.1159+521_1159+531del