Canonical Allele Identifier: CA1230435
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs140045735
ExAC: 1:168260377 A / AGTTTC
gnomAD v2: 1-168260377-A-AGTTTC
gnomAD v3: 1-168291139-A-AGTTTC
gnomAD v4: 1-168291139-A-AGTTTC
MyVariant Identifiers: chr1:g.168260377_168260378insGTTTC (hg19) chr1:g.168291139_168291140insGTTTC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291140_168291144dup , CM000663.2:g.168291140_168291144dup GRCh38
NC_000001.10:g.168260378_168260382dup , CM000663.1:g.168260378_168260382dup GRCh37
NC_000001.9:g.166527002_166527006dup NCBI36
NG_008244.1:g.15101_15105dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.204-20_204-16dup MANE Select ENSP00000356795.3:n.204-20_204-16dup
ENST00000367821.7:c.204-20_204-16dup ENSP00000356795.3:n.204-20_204-16dup
NM_005149.2:c.204-20_204-16dup NP_005140.1:n.204-20_204-16dup
NM_005149.3:c.204-20_204-16dup MANE Select NP_005140.1:n.204-20_204-16dup
Search 100 bp 5'
Search 100 bp 3'