Canonical Allele Identifier: CA1230543

Gene: TBX19

Linked Data

• dbSNP Id: rs373712384
• ExAC: 1:168262525 G / GTTTGTGTGTT
• MyVariant Identifiers: chr1:g.168262525_168262526insTTTGTGTGTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293288_168293289insTTGTGTGTTT , CM000663.2:g.168293288_168293289insTTGTGTGTTT	GRCh38
NC_000001.10:g.168262526_168262527insTTGTGTGTTT , CM000663.1:g.168262526_168262527insTTGTGTGTTT	GRCh37
NC_000001.9:g.166529150_166529151insTTGTGTGTTT	NCBI36
NG_008244.1:g.17249_17250insTTGTGTGTTT

Transcript Alleles

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