Canonical Allele Identifier: CA2396032721

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19767014_19767015delinsTG , CM000684.2:g.19767014_19767015delinsTG	GRCh38
NC_000022.10:g.19754537_19754538delinsTG , CM000684.1:g.19754537_19754538delinsTG	GRCh37
NC_000022.9:g.18134537_18134538delinsTG	NCBI36
NG_009229.1:g.15312_15313delinsTG , LRG_226:g.15312_15313delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.*147_*148delinsTG MANE Select	ENSP00000497003.1:n.*147_*148delinsTG
ENST00000329705.11:c.1009+1012_1009+1013delinsTG	ENSP00000331176.7:n.1009+1012_1009+1013delinsTG
ENST00000332710.8:c.*147_*148delinsTG	ENSP00000331791.4:n.*147_*148delinsTG
ENST00000359500.7:c.1009+1012_1009+1013delinsTG	ENSP00000352483.3:n.1009+1012_1009+1013delinsTG
ENST00000621939.1:c.1009+1012_1009+1013delinsTG	ENSP00000477982.1:n.1009+1012_1009+1013delinsTG
NM_005992.1:c.1009+1012_1009+1013delinsTG	NP_005983.1:n.1009+1012_1009+1013delinsTG
NM_080646.1:c.1009+1012_1009+1013delinsTG	NP_542377.1:n.1009+1012_1009+1013delinsTG
NM_080647.1:c.*147_*148delinsTG , LRG_226t1:c.*147_*148delinsTG	NP_542378.1:n.*147_*148delinsTG
XM_006724312.1:c.*147_*148delinsTG	XP_006724375.1:n.*147_*148delinsTG
XM_011530351.1:c.*147_*148delinsTG	XP_011528653.1:n.*147_*148delinsTG
XM_006724312.2:c.*147_*148delinsTG	XP_006724375.1:n.*147_*148delinsTG
XM_017028925.1:c.*147_*148delinsTG	XP_016884414.1:n.*147_*148delinsTG
XM_017028926.1:c.*147_*148delinsTG	XP_016884415.1:n.*147_*148delinsTG
XM_017028927.1:c.*147_*148delinsTG	XP_016884416.1:n.*147_*148delinsTG
XM_017028928.1:c.1159+1012_1159+1013delinsTG	XP_016884417.1:n.1159+1012_1159+1013delinsTG
NM_001379200.1:c.*147_*148delinsTG MANE Select	NP_001366129.1:n.*147_*148delinsTG
NM_080646.2:c.1009+1012_1009+1013delinsTG	NP_542377.1:n.1009+1012_1009+1013delinsTG