Canonical Allele Identifier: CA1230539

Gene: TBX19

Linked Data

• ClinVar Variation Id: 293470
• ClinVar RCV Id: RCV000294189 ; RCV002059348
• dbSNP Id: rs72294615
• ExAC: 1:168262523 G / GTGTT
• gnomAD v2: 1-168262523-G-GTGTT
• gnomAD v3: 1-168293285-G-GTGTT
• gnomAD v4: 1-168293285-G-GTGTT
• COSMIC: COSM5367575
• MyVariant Identifiers: chr1:g.168262526_168262527insTTGT (hg19) ; chr1:g.168262523_168262524insTGTT (hg19) ; chr1:g.168293288_168293289insTTGT (hg38) ; chr1:g.168293285_168293286insTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293288_168293289insTTGT , CM000663.2:g.168293288_168293289insTTGT	GRCh38
NC_000001.10:g.168262526_168262527insTTGT , CM000663.1:g.168262526_168262527insTTGT	GRCh37
NC_000001.9:g.166529150_166529151insTTGT	NCBI36
NG_008244.1:g.17249_17250insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+10_603+11insTTGT MANE Select	ENSP00000356795.3:n.603+10_603+11insTTGT
ENST00000367821.7:c.603+10_603+11insTTGT	ENSP00000356795.3:n.603+10_603+11insTTGT
ENST00000431969.5:c.400+10_400+11insTTGT
NM_005149.2:c.603+10_603+11insTTGT	NP_005140.1:n.603+10_603+11insTTGT
NM_005149.3:c.603+10_603+11insTTGT MANE Select	NP_005140.1:n.603+10_603+11insTTGT