Canonical Allele Identifier: CA322059407

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1216426
• ClinVar RCV Id: RCV001581055
• dbSNP Id: rs41298842
• gnomAD v2: 22-19754554-C-CG
• gnomAD v3: 22-19767031-C-CG
• gnomAD v4: 22-19767031-C-CG
• MyVariant Identifiers: chr22:g.19754554_19754555insG (hg19) ; chr22:g.19767031_19767032insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19767031_19767032insG , CM000684.2:g.19767031_19767032insG	GRCh38
NC_000022.10:g.19754554_19754555insG , CM000684.1:g.19754554_19754555insG	GRCh37
NC_000022.9:g.18134554_18134555insG	NCBI36
NG_009229.1:g.15329_15330insG , LRG_226:g.15329_15330insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.*164_*165insG MANE Select	ENSP00000497003.1:n.*164_*165insG
ENST00000329705.11:c.1009+1029_1009+1030insG	ENSP00000331176.7:n.1009+1029_1009+1030insG
ENST00000332710.8:c.*164_*165insG	ENSP00000331791.4:n.*164_*165insG
ENST00000359500.7:c.1009+1029_1009+1030insG	ENSP00000352483.3:n.1009+1029_1009+1030insG
ENST00000621939.1:c.1009+1029_1009+1030insG	ENSP00000477982.1:n.1009+1029_1009+1030insG
NM_005992.1:c.1009+1029_1009+1030insG	NP_005983.1:n.1009+1029_1009+1030insG
NM_080646.1:c.1009+1029_1009+1030insG	NP_542377.1:n.1009+1029_1009+1030insG
NM_080647.1:c.*164_*165insG , LRG_226t1:c.*164_*165insG	NP_542378.1:n.*164_*165insG
XM_006724312.1:c.*164_*165insG	XP_006724375.1:n.*164_*165insG
XM_011530351.1:c.*164_*165insG	XP_011528653.1:n.*164_*165insG
XM_006724312.2:c.*164_*165insG	XP_006724375.1:n.*164_*165insG
XM_017028925.1:c.*164_*165insG	XP_016884414.1:n.*164_*165insG
XM_017028926.1:c.*164_*165insG	XP_016884415.1:n.*164_*165insG
XM_017028927.1:c.*164_*165insG	XP_016884416.1:n.*164_*165insG
XM_017028928.1:c.1159+1029_1159+1030insG	XP_016884417.1:n.1159+1029_1159+1030insG
NM_001379200.1:c.*164_*165insG MANE Select	NP_001366129.1:n.*164_*165insG
NM_080646.2:c.1009+1029_1009+1030insG	NP_542377.1:n.1009+1029_1009+1030insG