Canonical Allele Identifier: CA2988384672

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765102dup , CM000684.2:g.19765102dup	GRCh38
NC_000022.10:g.19752625dup , CM000684.1:g.19752625dup	GRCh37
NC_000022.9:g.18132625dup	NCBI36
NG_009229.1:g.13400dup , LRG_226:g.13400dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001379200.1:c.856dup MANE Select	NP_001366129.1:p.Gln286ProfsTer23
ENST00000649276.2:c.856dup MANE Select	ENSP00000497003.1:p.Gln286ProfsTer23
NM_005992.1:c.829dup	NP_005983.1:p.Gln277ProfsTer23
NM_080646.1:c.829dup	NP_542377.1:p.Gln277ProfsTer23
NM_080646.2:c.829dup	NP_542377.1:p.Gln277ProfsTer23
NM_080647.1:c.829dup , LRG_226t1:c.829dup	NP_542378.1:p.Gln277ProfsTer23
ENST00000329705.11:c.829dup	ENSP00000331176.7:p.Gln277ProfsTer23
ENST00000332710.8:c.829dup	ENSP00000331791.4:p.Gln277ProfsTer23
ENST00000359500.7:c.829dup	ENSP00000352483.3:p.Gln277ProfsTer23
ENST00000484336.1:n.24dup
ENST00000621939.1:c.829dup	ENSP00000477982.1:p.Gln277ProfsTer23
ENST00000700274.1:c.382dup	ENSP00000514909.1:p.Gln128ProfsTer23
XM_006724312.1:c.829dup	XP_006724375.1:p.Gln277ProfsTer23
XM_006724312.2:c.829dup	XP_006724375.1:p.Gln277ProfsTer23
XM_011530351.1:c.856dup	XP_011528653.1:p.Gln286ProfsTer23
XM_017028925.1:c.979dup	XP_016884414.1:p.Gln327ProfsTer23
XM_017028926.1:c.829dup	XP_016884415.1:p.Gln277ProfsTer23
XM_017028927.1:c.130dup	XP_016884416.1:p.Gln44ProfsTer?
XM_017028928.1:c.979dup	XP_016884417.1:p.Gln327ProfsTer23