Canonical Allele Identifier: CA683850129

Gene: TBX3 TBX3-AS1

Linked Data

• dbSNP Id: rs1345535109
• gnomAD v3: 12-114683270-GTT-G
• gnomAD v4: 12-114683270-GTT-G
• MyVariant Identifiers: chr12:g.115121076_115121077del (hg19) ; chr12:g.114683271_114683272del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114683271_114683272del , CM000674.2:g.114683271_114683272del	GRCh38
NC_000012.11:g.115121076_115121077del , CM000674.1:g.115121076_115121077del	GRCh37
NC_000012.10:g.113605459_113605460del	NCBI36
NG_008315.1:g.5893_5894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.-72_-71del (TBX3) MANE Select	ENSP00000257567.2:n.-72_-71del
ENST00000257566.7:c.-72_-71del (TBX3)	ENSP00000257566.3:n.-72_-71del
ENST00000349155.6:c.-72_-71del (TBX3)	ENSP00000257567.2:n.-72_-71del
ENST00000552054.1:n.163_164del (TBX3)
ENST00000613550.1:c.-72_-71del (TBX3)	ENSP00000480048.1:n.-72_-71del
NM_005996.3:c.-72_-71del (TBX3)	NP_005987.3:n.-72_-71del
NM_016569.3:c.-72_-71del (TBX3)	NP_057653.3:n.-72_-71del
XR_002957433.1:n.114+637_114+638del (TBX3-AS1)
NM_005996.4:c.-72_-71del (TBX3) MANE Select	NP_005987.3:n.-72_-71del
NM_016569.4:c.-72_-71del (TBX3)	NP_057653.3:n.-72_-71del