Canonical Allele Identifier: CA890800579

Gene: TBX19

Linked Data

• dbSNP Id: rs57039241
• gnomAD v3: 1-168293284-AGTGTGTGTGTGTGTGTGTGTGT-A
• gnomAD v4: 1-168293284-AGTGTGTGTGTGTGTGTGTGTGT-A
• MyVariant Identifiers: chr1:g.168262523_168262544del (hg19) ; chr1:g.168293285_168293306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293305_168293326del , CM000663.2:g.168293305_168293326del	GRCh38
NC_000001.10:g.168262543_168262564del , CM000663.1:g.168262543_168262564del	GRCh37
NC_000001.9:g.166529167_166529188del	NCBI36
NG_008244.1:g.17266_17287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+27_603+48del MANE Select	ENSP00000356795.3:n.603+27_603+48del
ENST00000367821.7:c.603+27_603+48del	ENSP00000356795.3:n.603+27_603+48del
ENST00000431969.5:c.400+27_400+48del
NM_005149.2:c.603+27_603+48del	NP_005140.1:n.603+27_603+48del
NM_005149.3:c.603+27_603+48del MANE Select	NP_005140.1:n.603+27_603+48del