Canonical Allele Identifier: CA645577358
Gene: TBX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674688dup , CM000674.2:g.114674688dup GRCh38
NC_000012.11:g.115112493dup , CM000674.1:g.115112493dup GRCh37
NC_000012.10:g.113596876dup NCBI36
NG_008315.1:g.14480dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1190dup MANE Select ENSP00000257567.2:p.Ala398ArgfsTer3
ENST00000257566.7:c.1250dup ENSP00000257566.3:p.Ala418ArgfsTer3
ENST00000349155.6:c.1190dup ENSP00000257567.2:p.Ala398ArgfsTer3
ENST00000613550.1:c.1190dup ENSP00000480048.1:p.Ala398ArgfsTer3
NM_005996.3:c.1190dup NP_005987.3:p.Ala398ArgfsTer3
NM_016569.3:c.1250dup NP_057653.3:p.Ala418ArgfsTer3
NM_005996.4:c.1190dup MANE Select NP_005987.3:p.Ala398ArgfsTer3
NM_016569.4:c.1250dup NP_057653.3:p.Ala418ArgfsTer3