Canonical Allele Identifier: CA2655306521

Gene: TBX1

Linked Data

• gnomAD v4: 22-19766715-T-TACCACCCGCACGCGCATCCGCACCACCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766723_19766752dup , CM000684.2:g.19766723_19766752dup	GRCh38
NC_000022.10:g.19754246_19754275dup , CM000684.1:g.19754246_19754275dup	GRCh37
NC_000022.9:g.18134246_18134275dup	NCBI36
NG_009229.1:g.15021_15050dup , LRG_226:g.15021_15050dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000649276.2:c.1371_1400dup MANE Select	ENSP00000497003.1:p.Pro467_Val468insHisAl...
ENST00000329705.11:c.1009+721_1009+750dup	ENSP00000331176.7:n.1009+721_1009+750dup
ENST00000332710.8:c.1344_1373dup	ENSP00000331791.4:p.Pro458_Val459insHisAl...
ENST00000359500.7:c.1009+721_1009+750dup	ENSP00000352483.3:n.1009+721_1009+750dup
ENST00000621939.1:c.1009+721_1009+750dup	ENSP00000477982.1:n.1009+721_1009+750dup
NM_005992.1:c.1009+721_1009+750dup	NP_005983.1:n.1009+721_1009+750dup
NM_080646.1:c.1009+721_1009+750dup	NP_542377.1:n.1009+721_1009+750dup
NM_080647.1:c.1344_1373dup , LRG_226t1:c.1344_1373dup	NP_542378.1:p.Pro458_Val459insHisAlaHisPr...
XM_006724312.1:c.1344_1373dup	XP_006724375.1:p.Pro458_Val459insHisAlaHi...
XM_011530351.1:c.1371_1400dup	XP_011528653.1:p.Pro467_Val468insHisAlaHi...
XM_006724312.2:c.1344_1373dup	XP_006724375.1:p.Pro458_Val459insHisAlaHi...
XM_017028925.1:c.1494_1523dup	XP_016884414.1:p.Pro508_Val509insHisAlaHi...
XM_017028926.1:c.1344_1373dup	XP_016884415.1:p.Pro458_Val459insHisAlaHi...
XM_017028927.1:c.699_728dup	XP_016884416.1:p.Pro243_Val244insHisAlaHi...
XM_017028928.1:c.1159+721_1159+750dup	XP_016884417.1:n.1159+721_1159+750dup
NM_001379200.1:c.1371_1400dup MANE Select	NP_001366129.1:p.Pro467_Val468insHisAlaHi...
NM_080646.2:c.1009+721_1009+750dup	NP_542377.1:n.1009+721_1009+750dup