Canonical Allele Identifier: CA890800537

Gene: TBX19

Linked Data

• dbSNP Id: rs746785887
• gnomAD v3: 1-168293284-A-AGTGTTTGTGTGTGTGT
• gnomAD v4: 1-168293284-A-AGTGTTTGTGTGTGTGT
• MyVariant Identifiers: chr1:g.168262522_168262523insGTGTTTGTGTGTGTGT (hg19) ; chr1:g.168293284_168293285insGTGTTTGTGTGTGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293288_168293289insTTGTGTGTGTGTGTGT , CM000663.2:g.168293288_168293289insTTGTGTGTGTGTGTGT	GRCh38
NC_000001.10:g.168262526_168262527insTTGTGTGTGTGTGTGT , CM000663.1:g.168262526_168262527insTTGTGTGTGTGTGTGT	GRCh37
NC_000001.9:g.166529150_166529151insTTGTGTGTGTGTGTGT	NCBI36
NG_008244.1:g.17249_17250insTTGTGTGTGTGTGTGT

Transcript Alleles

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