Canonical Allele Identifier: CA10102754

Gene: TBX1

Linked Data

• dbSNP Id: rs749601692
• ExAC: 22:19754294 GGCCGCCGCCGCCGCT / G
• gnomAD v4: 22-19766771-GGCCGCCGCCGCCGCT-G
• MyVariant Identifiers: chr22:g.19754295_19754309del (hg19) ; chr22:g.19766772_19766786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766777_19766791del , CM000684.2:g.19766777_19766791del	GRCh38
NC_000022.10:g.19754300_19754314del , CM000684.1:g.19754300_19754314del	GRCh37
NC_000022.9:g.18134300_18134314del	NCBI36
NG_009229.1:g.15075_15089del , LRG_226:g.15075_15089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1425_1439del MANE Select	ENSP00000497003.1:p.Ala476_Ala480del
ENST00000329705.11:c.1009+775_1009+789del	ENSP00000331176.7:n.1009+775_1009+789del
ENST00000332710.8:c.1398_1412del	ENSP00000331791.4:p.Ala467_Ala471del
ENST00000359500.7:c.1009+775_1009+789del	ENSP00000352483.3:n.1009+775_1009+789del
ENST00000621939.1:c.1009+775_1009+789del	ENSP00000477982.1:n.1009+775_1009+789del
NM_005992.1:c.1009+775_1009+789del	NP_005983.1:n.1009+775_1009+789del
NM_080646.1:c.1009+775_1009+789del	NP_542377.1:n.1009+775_1009+789del
NM_080647.1:c.1398_1412del , LRG_226t1:c.1398_1412del	NP_542378.1:p.Ala467_Ala471del
XM_006724312.1:c.1398_1412del	XP_006724375.1:p.Ala467_Ala471del
XM_011530351.1:c.1425_1439del	XP_011528653.1:p.Ala476_Ala480del
XM_006724312.2:c.1398_1412del	XP_006724375.1:p.Ala467_Ala471del
XM_017028925.1:c.1548_1562del	XP_016884414.1:p.Ala517_Ala521del
XM_017028926.1:c.1398_1412del	XP_016884415.1:p.Ala467_Ala471del
XM_017028927.1:c.753_767del	XP_016884416.1:p.Ala252_Ala256del
XM_017028928.1:c.1159+775_1159+789del	XP_016884417.1:n.1159+775_1159+789del
NM_001379200.1:c.1425_1439del MANE Select	NP_001366129.1:p.Ala476_Ala480del
NM_080646.2:c.1009+775_1009+789del	NP_542377.1:n.1009+775_1009+789del