Canonical Allele Identifier: CA527130760

Gene: TBX19

Linked Data

• dbSNP Id: rs1558191082
• gnomAD v2: 1-168262525-G-GTGTT
• gnomAD v4: 1-168293287-G-GTGTT
• MyVariant Identifiers: chr1:g.168262525_168262526insTGTT (hg19) ; chr1:g.168293287_168293288insTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293290_168293291insTTGT , CM000663.2:g.168293290_168293291insTTGT	GRCh38
NC_000001.10:g.168262528_168262529insTTGT , CM000663.1:g.168262528_168262529insTTGT	GRCh37
NC_000001.9:g.166529152_166529153insTTGT	NCBI36
NG_008244.1:g.17251_17252insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+12_603+13insTTGT MANE Select	ENSP00000356795.3:n.603+12_603+13insTTGT
ENST00000367821.7:c.603+12_603+13insTTGT	ENSP00000356795.3:n.603+12_603+13insTTGT
ENST00000431969.5:c.400+12_400+13insTTGT
NM_005149.2:c.603+12_603+13insTTGT	NP_005140.1:n.603+12_603+13insTTGT
NM_005149.3:c.603+12_603+13insTTGT MANE Select	NP_005140.1:n.603+12_603+13insTTGT