Canonical Allele Identifier: CA2621130033

Gene: TBX3

Linked Data

• gnomAD v4: 12-114674704-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674708del , CM000674.2:g.114674708del	GRCh38
NC_000012.11:g.115112513del , CM000674.1:g.115112513del	GRCh37
NC_000012.10:g.113596896del	NCBI36
NG_008315.1:g.14460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1170del MANE Select	ENSP00000257567.2:p.Ala391ArgfsTer?
ENST00000257566.7:c.1230del	ENSP00000257566.3:p.Ala411ArgfsTer?
ENST00000349155.6:c.1170del	ENSP00000257567.2:p.Ala391ArgfsTer?
ENST00000613550.1:c.1170del	ENSP00000480048.1:p.Ala391ArgfsTer?
NM_005996.3:c.1170del	NP_005987.3:p.Ala391ArgfsTer?
NM_016569.3:c.1230del	NP_057653.3:p.Ala411ArgfsTer?
NM_005996.4:c.1170del MANE Select	NP_005987.3:p.Ala391ArgfsTer?
NM_016569.4:c.1230del	NP_057653.3:p.Ala411ArgfsTer?