Allele Registry

Canonical Allele Identifier: CA221888

Gene: DBT HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.100230891_100230894del

GRCh37 chr1:g.100696447_100696450del

GRCh37 chr1:g.100696447_100696450delACTG

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000178172

RCV003635902

ClinVar Variation:

94000

dbSNP:

398123666

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100230891_100230894del , CM000663.2:g.100230891_100230894del	GRCh38
NC_000001.10:g.100696447_100696450del , CM000663.1:g.100696447_100696450del	GRCh37
NC_000001.9:g.100469035_100469038del	NCBI36
NG_011852.2:g.23960_23963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.272_275del	ENSP00000505544.1:p.Thr91SerfsTer?
ENST00000681780.1:c.-272_-269del	ENSP00000505780.1:n.-272_-269del
ENST00000370131.3:c.272_275del	ENSP00000359150.3:p.Thr91SerfsTer?
ENST00000370132.8:c.272_275del MANE Select	ENSP00000359151.3:p.Thr91SerfsTer?
NM_001918.3:c.272_275del	NP_001909.3:p.Thr91SerfsTer?
XM_005270545.2:c.-272_-269del	XP_005270602.1:n.-272_-269del
XM_005270546.2:c.-111+4542_-111+4545del	XP_005270603.1:n.-111+4542_-111+4545del
XR_946560.1:n.292_295del
XM_005270545.4:c.-272_-269del	XP_005270602.1:n.-272_-269del
XM_017000468.2:c.-272_-269del	XP_016855957.1:n.-272_-269del
XM_017000469.2:c.-111+4542_-111+4545del	XP_016855958.1:n.-111+4542_-111+4545del
XR_946560.3:n.289_292del
NM_001918.4:c.272_275del	NP_001909.3:p.Thr91SerfsTer?
NM_001918.5:c.272_275del MANE Select	NP_001909.4:p.Thr91SerfsTer?
NM_001399969.1:c.-272_-269del	NP_001386898.1:n.-272_-269del
NM_001399972.1:c.-272_-269del	NP_001386901.1:n.-272_-269del
NR_174363.1:n.265+4542_265+4545del
NR_174364.1:n.286_289del
NR_174365.1:n.286_289del
NR_174366.1:n.286_289del

Search 100 bp 5'

Search 100 bp 3'