Canonical Allele Identifier: CA482136406

Gene: TBX3

Linked Data

• dbSNP Id: rs1237767989
• gnomAD v3: 12-114674794-TCTCGGC-T
• gnomAD v4: 12-114674794-TCTCGGC-T
• MyVariant Identifiers: chr12:g.115112600_115112605del (hg19) ; chr12:g.114674795_114674800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674801_114674806del , CM000674.2:g.114674801_114674806del	GRCh38
NC_000012.11:g.115112606_115112611del , CM000674.1:g.115112606_115112611del	GRCh37
NC_000012.10:g.113596989_113596994del	NCBI36
NG_008315.1:g.14365_14370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1075_1080del MANE Select	ENSP00000257567.2:p.Ala359_Glu360del
ENST00000257566.7:c.1135_1140del	ENSP00000257566.3:p.Ala379_Glu380del
ENST00000349155.6:c.1075_1080del	ENSP00000257567.2:p.Ala359_Glu360del
ENST00000613550.1:c.1075_1080del	ENSP00000480048.1:p.Ala359_Glu360del
NM_005996.3:c.1075_1080del	NP_005987.3:p.Ala359_Glu360del
NM_016569.3:c.1135_1140del	NP_057653.3:p.Ala379_Glu380del
NM_005996.4:c.1075_1080del MANE Select	NP_005987.3:p.Ala359_Glu360del
NM_016569.4:c.1135_1140del	NP_057653.3:p.Ala379_Glu380del