Canonical Allele Identifier: CA2621130046

Gene: TBX3

Linked Data

• gnomAD v4: 12-114674824-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674827del , CM000674.2:g.114674827del	GRCh38
NC_000012.11:g.115112632del , CM000674.1:g.115112632del	GRCh37
NC_000012.10:g.113597015del	NCBI36
NG_008315.1:g.14340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1050del MANE Select	ENSP00000257567.2:p.Ser351AlafsTer?
ENST00000257566.7:c.1110del	ENSP00000257566.3:p.Ser371AlafsTer?
ENST00000349155.6:c.1050del	ENSP00000257567.2:p.Ser351AlafsTer?
ENST00000613550.1:c.1050del	ENSP00000480048.1:p.Ser351AlafsTer?
NM_005996.3:c.1050del	NP_005987.3:p.Ser351AlafsTer?
NM_016569.3:c.1110del	NP_057653.3:p.Ser371AlafsTer?
NM_005996.4:c.1050del MANE Select	NP_005987.3:p.Ser351AlafsTer?
NM_016569.4:c.1110del	NP_057653.3:p.Ser371AlafsTer?