Canonical Allele Identifier: CA527130772

Gene: TBX19

Linked Data

• gnomAD v2: 1-168262551-G-GTGTC
• gnomAD v4: 1-168293313-G-GTGTC
• MyVariant Identifiers: chr1:g.168262551_168262552insTGTC (hg19) ; chr1:g.168293313_168293314insTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293316_168293317insCTGT , CM000663.2:g.168293316_168293317insCTGT	GRCh38
NC_000001.10:g.168262554_168262555insCTGT , CM000663.1:g.168262554_168262555insCTGT	GRCh37
NC_000001.9:g.166529178_166529179insCTGT	NCBI36
NG_008244.1:g.17277_17278insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+38_603+39insCTGT MANE Select	ENSP00000356795.3:n.603+38_603+39insCTGT
ENST00000367821.7:c.603+38_603+39insCTGT	ENSP00000356795.3:n.603+38_603+39insCTGT
ENST00000431969.5:c.400+38_400+39insCTGT
NM_005149.2:c.603+38_603+39insCTGT	NP_005140.1:n.603+38_603+39insCTGT
NM_005149.3:c.603+38_603+39insCTGT MANE Select	NP_005140.1:n.603+38_603+39insCTGT