Canonical Allele Identifier: CA2838226820

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764308dup , CM000684.2:g.19764308dup	GRCh38
NC_000022.10:g.19751831dup , CM000684.1:g.19751831dup	GRCh37
NC_000022.9:g.18131831dup	NCBI36
NG_009229.1:g.12606dup , LRG_226:g.12606dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.219dup	ENSP00000514909.1:p.Leu74ThrfsTer30
ENST00000649276.2:c.693dup MANE Select	ENSP00000497003.1:p.Leu232ThrfsTer30
ENST00000680333.1:c.666dup	ENSP00000505472.1:p.Leu223ThrfsTer?
ENST00000329705.11:c.666dup	ENSP00000331176.7:p.Leu223ThrfsTer30
ENST00000332710.8:c.666dup	ENSP00000331791.4:p.Leu223ThrfsTer30
ENST00000359500.7:c.666dup	ENSP00000352483.3:p.Leu223ThrfsTer30
ENST00000621939.1:c.666dup	ENSP00000477982.1:p.Leu223ThrfsTer30
NM_005992.1:c.666dup	NP_005983.1:p.Leu223ThrfsTer30
NM_080646.1:c.666dup	NP_542377.1:p.Leu223ThrfsTer30
NM_080647.1:c.666dup , LRG_226t1:c.666dup	NP_542378.1:p.Leu223ThrfsTer30
XM_006724312.1:c.666dup	XP_006724375.1:p.Leu223ThrfsTer30
XM_011530351.1:c.693dup	XP_011528653.1:p.Leu232ThrfsTer30
XM_006724312.2:c.666dup	XP_006724375.1:p.Leu223ThrfsTer30
XM_017028925.1:c.816dup	XP_016884414.1:p.Leu273ThrfsTer30
XM_017028926.1:c.666dup	XP_016884415.1:p.Leu223ThrfsTer30
XM_017028928.1:c.816dup	XP_016884417.1:p.Leu273ThrfsTer30
NM_001379200.1:c.693dup MANE Select	NP_001366129.1:p.Leu232ThrfsTer30
NM_080646.2:c.666dup	NP_542377.1:p.Leu223ThrfsTer30