Canonical Allele Identifier: CA16043162
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373046
ClinVar RCV Id: RCV000414465
dbSNP Id: rs1057518168
MyVariant Identifiers: chr22:g.19754078_19754097dup20 (hg19) chr22:g.19766555_19766574dup20 (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19766555_19766574dup , CM000684.2:g.19766555_19766574dup GRCh38
NC_000022.10:g.19754078_19754097dup , CM000684.1:g.19754078_19754097dup GRCh37
NC_000022.9:g.18134078_18134097dup NCBI36
NG_009229.1:g.14853_14872dup , LRG_226:g.14853_14872dup

Transcript Alleles

HGVS Amino-acid change
ENST00000649276.2:c.1203_1222dup MANE Select ENSP00000497003.1:p.Glu408GlyfsTer?
ENST00000329705.11:c.1009+553_1009+572dup ENSP00000331176.7:n.1009+553_1009+572dup
ENST00000332710.8:c.1176_1195dup ENSP00000331791.4:p.Glu399GlyfsTer?
ENST00000359500.7:c.1009+553_1009+572dup ENSP00000352483.3:n.1009+553_1009+572dup
ENST00000621939.1:c.1009+553_1009+572dup ENSP00000477982.1:n.1009+553_1009+572dup
NM_005992.1:c.1009+553_1009+572dup NP_005983.1:n.1009+553_1009+572dup
NM_080646.1:c.1009+553_1009+572dup NP_542377.1:n.1009+553_1009+572dup
NM_080647.1:c.1176_1195dup , LRG_226t1:c.1176_1195dup NP_542378.1:p.Glu399GlyfsTer?
XM_006724312.1:c.1176_1195dup XP_006724375.1:p.Glu399GlyfsTer?
XM_011530351.1:c.1203_1222dup XP_011528653.1:p.Glu408GlyfsTer?
XM_006724312.2:c.1176_1195dup XP_006724375.1:p.Glu399GlyfsTer?
XM_017028925.1:c.1326_1345dup XP_016884414.1:p.Glu449GlyfsTer?
XM_017028926.1:c.1176_1195dup XP_016884415.1:p.Glu399GlyfsTer?
XM_017028927.1:c.531_550dup XP_016884416.1:p.Glu184GlyfsTer?
XM_017028928.1:c.1159+553_1159+572dup XP_016884417.1:n.1159+553_1159+572dup
NM_001379200.1:c.1203_1222dup MANE Select NP_001366129.1:p.Glu408GlyfsTer?
NM_080646.2:c.1009+553_1009+572dup NP_542377.1:n.1009+553_1009+572dup
Search 100 bp 5'
Search 100 bp 3'