Canonical Allele Identifier: CA244155305

Gene: TBX3 TBX3-AS1

Linked Data

• dbSNP Id: rs1007131458
• gnomAD v3: 12-114683326-GAAAGAAA-G
• gnomAD v4: 12-114683326-GAAAGAAA-G
• MyVariant Identifiers: chr12:g.115121132_115121138del (hg19) ; chr12:g.114683327_114683333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114683335_114683341del , CM000674.2:g.114683335_114683341del	GRCh38
NC_000012.11:g.115121140_115121146del , CM000674.1:g.115121140_115121146del	GRCh37
NC_000012.10:g.113605523_113605529del	NCBI36
NG_008315.1:g.5832_5838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.-133_-127del (TBX3) MANE Select	ENSP00000257567.2:n.-133_-127del
ENST00000257566.7:c.-133_-127del (TBX3)	ENSP00000257566.3:n.-133_-127del
ENST00000349155.6:c.-133_-127del (TBX3)	ENSP00000257567.2:n.-133_-127del
ENST00000552054.1:n.102_108del (TBX3)
ENST00000613550.1:c.-133_-127del (TBX3)	ENSP00000480048.1:n.-133_-127del
NM_005996.3:c.-133_-127del (TBX3)	NP_005987.3:n.-133_-127del
NM_016569.3:c.-133_-127del (TBX3)	NP_057653.3:n.-133_-127del
XR_002957433.1:n.114+701_114+707del (TBX3-AS1)
NM_005996.4:c.-133_-127del (TBX3) MANE Select	NP_005987.3:n.-133_-127del
NM_016569.4:c.-133_-127del (TBX3)	NP_057653.3:n.-133_-127del