Canonical Allele Identifier: CA2064766604
Gene: TBX3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674684_114674685delinsGA , CM000674.2:g.114674684_114674685delinsGA GRCh38
NC_000012.11:g.115112489_115112490delinsGA , CM000674.1:g.115112489_115112490delinsGA GRCh37
NC_000012.10:g.113596872_113596873delinsGA NCBI36
NG_008315.1:g.14480_14481delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1190_1191delinsTC MANE Select ENSP00000257567.2:p.Phe397=
ENST00000257566.7:c.1250_1251delinsTC ENSP00000257566.3:p.Phe417=
ENST00000349155.6:c.1190_1191delinsTC ENSP00000257567.2:p.Phe397=
ENST00000613550.1:c.1190_1191delinsTC ENSP00000480048.1:p.Phe397=
NM_005996.3:c.1190_1191delinsTC NP_005987.3:p.Phe397=
NM_016569.3:c.1250_1251delinsTC NP_057653.3:p.Phe417=
NM_005996.4:c.1190_1191delinsTC MANE Select NP_005987.3:p.Phe397=
NM_016569.4:c.1250_1251delinsTC NP_057653.3:p.Phe417=
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