Canonical Allele Identifier: CA751464159

Gene: TBX1

Linked Data

• dbSNP Id: rs1439998955
• gnomAD v3: 22-19766956-T-TA
• gnomAD v4: 22-19766956-T-TA
• MyVariant Identifiers: chr22:g.19754479_19754480insA (hg19) ; chr22:g.19766956_19766957insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766957dup , CM000684.2:g.19766957dup	GRCh38
NC_000022.10:g.19754480dup , CM000684.1:g.19754480dup	GRCh37
NC_000022.9:g.18134480dup	NCBI36
NG_009229.1:g.15255dup , LRG_226:g.15255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.*90dup MANE Select	ENSP00000497003.1:n.*90dup
ENST00000329705.11:c.1009+955dup	ENSP00000331176.7:n.1009+955dup
ENST00000332710.8:c.*90dup	ENSP00000331791.4:n.*90dup
ENST00000359500.7:c.1009+955dup	ENSP00000352483.3:n.1009+955dup
ENST00000621939.1:c.1009+955dup	ENSP00000477982.1:n.1009+955dup
NM_005992.1:c.1009+955dup	NP_005983.1:n.1009+955dup
NM_080646.1:c.1009+955dup	NP_542377.1:n.1009+955dup
NM_080647.1:c.*90dup , LRG_226t1:c.*90dup	NP_542378.1:n.*90dup
XM_006724312.1:c.*90dup	XP_006724375.1:n.*90dup
XM_011530351.1:c.*90dup	XP_011528653.1:n.*90dup
XM_006724312.2:c.*90dup	XP_006724375.1:n.*90dup
XM_017028925.1:c.*90dup	XP_016884414.1:n.*90dup
XM_017028926.1:c.*90dup	XP_016884415.1:n.*90dup
XM_017028927.1:c.*90dup	XP_016884416.1:n.*90dup
XM_017028928.1:c.1159+955dup	XP_016884417.1:n.1159+955dup
NM_001379200.1:c.*90dup MANE Select	NP_001366129.1:n.*90dup
NM_080646.2:c.1009+955dup	NP_542377.1:n.1009+955dup