Canonical Allele Identifier: CA2396032524

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766762_19766771delinsAGCCGCCGCG , CM000684.2:g.19766762_19766771delinsAGCCGCCGCG	GRCh38
NC_000022.10:g.19754285_19754294delinsAGCCGCCGCG , CM000684.1:g.19754285_19754294delinsAGCCGCCGCG	GRCh37
NC_000022.9:g.18134285_18134294delinsAGCCGCCGCG	NCBI36
NG_009229.1:g.15060_15069delinsAGCCGCCGCG , LRG_226:g.15060_15069delinsAGCCGCCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1410_1419delinsAGCCGCCGCG MANE Select	ENSP00000497003.1:p.Pro470=
ENST00000329705.11:c.1009+760_1009+769delinsAGCCGCCGCG	ENSP00000331176.7:n.1009+760_1009+769delinsAGCCGCCGCG
ENST00000332710.8:c.1383_1392delinsAGCCGCCGCG	ENSP00000331791.4:p.Pro461=
ENST00000359500.7:c.1009+760_1009+769delinsAGCCGCCGCG	ENSP00000352483.3:n.1009+760_1009+769delinsAGCCGCCGCG
ENST00000621939.1:c.1009+760_1009+769delinsAGCCGCCGCG	ENSP00000477982.1:n.1009+760_1009+769delinsAGCCGCCGCG
NM_005992.1:c.1009+760_1009+769delinsAGCCGCCGCG	NP_005983.1:n.1009+760_1009+769delinsAGCCGCCGCG
NM_080646.1:c.1009+760_1009+769delinsAGCCGCCGCG	NP_542377.1:n.1009+760_1009+769delinsAGCCGCCGCG
NM_080647.1:c.1383_1392delinsAGCCGCCGCG , LRG_226t1:c.1383_1392delinsAGCCGCCGCG	NP_542378.1:p.Pro461=
XM_006724312.1:c.1383_1392delinsAGCCGCCGCG	XP_006724375.1:p.Pro461=
XM_011530351.1:c.1410_1419delinsAGCCGCCGCG	XP_011528653.1:p.Pro470=
XM_006724312.2:c.1383_1392delinsAGCCGCCGCG	XP_006724375.1:p.Pro461=
XM_017028925.1:c.1533_1542delinsAGCCGCCGCG	XP_016884414.1:p.Pro511=
XM_017028926.1:c.1383_1392delinsAGCCGCCGCG	XP_016884415.1:p.Pro461=
XM_017028927.1:c.738_747delinsAGCCGCCGCG	XP_016884416.1:p.Pro246=
XM_017028928.1:c.1159+760_1159+769delinsAGCCGCCGCG	XP_016884417.1:n.1159+760_1159+769delinsAGCCGCCGCG
NM_001379200.1:c.1410_1419delinsAGCCGCCGCG MANE Select	NP_001366129.1:p.Pro470=
NM_080646.2:c.1009+760_1009+769delinsAGCCGCCGCG	NP_542377.1:n.1009+760_1009+769delinsAGCCGCCGCG