Canonical Allele Identifier: CA1230542
Gene: TBX19 HGNC NCBI

Linked Data

ClinVar Variation Id: 293471
ClinVar RCV Id: RCV000330602 RCV002059349
dbSNP Id: rs373712384
ExAC: 1:168262525 G / GTT
gnomAD v2: 1-168262525-G-GTT
gnomAD v3: 1-168293287-G-GTT
gnomAD v4: 1-168293287-G-GTT
COSMIC: COSM5367568
MyVariant Identifiers: chr1:g.168262526_168262527insTT (hg19) chr1:g.168262525_168262526insTT (hg19) chr1:g.168293288_168293289insTT (hg38) chr1:g.168293287_168293288insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293288_168293289insTT , CM000663.2:g.168293288_168293289insTT GRCh38
NC_000001.10:g.168262526_168262527insTT , CM000663.1:g.168262526_168262527insTT GRCh37
NC_000001.9:g.166529150_166529151insTT NCBI36
NG_008244.1:g.17249_17250insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.603+10_603+11insTT MANE Select ENSP00000356795.3:n.603+10_603+11insTT
ENST00000367821.7:c.603+10_603+11insTT ENSP00000356795.3:n.603+10_603+11insTT
ENST00000431969.5:c.400+10_400+11insTT
NM_005149.2:c.603+10_603+11insTT NP_005140.1:n.603+10_603+11insTT
NM_005149.3:c.603+10_603+11insTT MANE Select NP_005140.1:n.603+10_603+11insTT
Search 100 bp 5'
Search 100 bp 3'