Canonical Allele Identifier: CA2396032613

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766873_19766874delinsGC , CM000684.2:g.19766873_19766874delinsGC	GRCh38
NC_000022.10:g.19754396_19754397delinsGC , CM000684.1:g.19754396_19754397delinsGC	GRCh37
NC_000022.9:g.18134396_18134397delinsGC	NCBI36
NG_009229.1:g.15171_15172delinsGC , LRG_226:g.15171_15172delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.*6_*7delinsGC MANE Select	ENSP00000497003.1:n.*6_*7delinsGC
ENST00000329705.11:c.1009+871_1009+872delinsGC	ENSP00000331176.7:n.1009+871_1009+872delinsGC
ENST00000332710.8:c.*6_*7delinsGC	ENSP00000331791.4:n.*6_*7delinsGC
ENST00000359500.7:c.1009+871_1009+872delinsGC	ENSP00000352483.3:n.1009+871_1009+872delinsGC
ENST00000621939.1:c.1009+871_1009+872delinsGC	ENSP00000477982.1:n.1009+871_1009+872delinsGC
NM_005992.1:c.1009+871_1009+872delinsGC	NP_005983.1:n.1009+871_1009+872delinsGC
NM_080646.1:c.1009+871_1009+872delinsGC	NP_542377.1:n.1009+871_1009+872delinsGC
NM_080647.1:c.*6_*7delinsGC , LRG_226t1:c.*6_*7delinsGC	NP_542378.1:n.*6_*7delinsGC
XM_006724312.1:c.*6_*7delinsGC	XP_006724375.1:n.*6_*7delinsGC
XM_011530351.1:c.*6_*7delinsGC	XP_011528653.1:n.*6_*7delinsGC
XM_006724312.2:c.*6_*7delinsGC	XP_006724375.1:n.*6_*7delinsGC
XM_017028925.1:c.*6_*7delinsGC	XP_016884414.1:n.*6_*7delinsGC
XM_017028926.1:c.*6_*7delinsGC	XP_016884415.1:n.*6_*7delinsGC
XM_017028927.1:c.*6_*7delinsGC	XP_016884416.1:n.*6_*7delinsGC
XM_017028928.1:c.1159+871_1159+872delinsGC	XP_016884417.1:n.1159+871_1159+872delinsGC
NM_001379200.1:c.*6_*7delinsGC MANE Select	NP_001366129.1:n.*6_*7delinsGC
NM_080646.2:c.1009+871_1009+872delinsGC	NP_542377.1:n.1009+871_1009+872delinsGC