Allele Registry

Canonical Allele Identifier: CA221889

Gene: DBT HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.100230821_100230827del

GRCh37 chr1:g.100696377_100696383del

GRCh37 chr1:g.100696377_100696383delATCATAA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000178170

ClinVar Variation:

94001

dbSNP:

398123667

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100230821_100230827del , CM000663.2:g.100230821_100230827del	GRCh38
NC_000001.10:g.100696377_100696383del , CM000663.1:g.100696377_100696383del	GRCh37
NC_000001.9:g.100468965_100468971del	NCBI36
NG_011852.2:g.24027_24033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.339_345del	ENSP00000505544.1:p.Tyr114GlufsTer10
ENST00000681780.1:c.-205_-199del	ENSP00000505780.1:n.-205_-199del
ENST00000370131.3:c.339_345del	ENSP00000359150.3:p.Tyr114GlufsTer10
ENST00000370132.8:c.339_345del MANE Select	ENSP00000359151.3:p.Tyr114GlufsTer10
NM_001918.3:c.339_345del	NP_001909.3:p.Tyr114GlufsTer10
XM_005270545.2:c.-205_-199del	XP_005270602.1:n.-205_-199del
XM_005270546.2:c.-111+4609_-111+4615del	XP_005270603.1:n.-111+4609_-111+4615del
XR_946560.1:n.359_365del
XM_005270545.4:c.-205_-199del	XP_005270602.1:n.-205_-199del
XM_017000468.2:c.-205_-199del	XP_016855957.1:n.-205_-199del
XM_017000469.2:c.-111+4609_-111+4615del	XP_016855958.1:n.-111+4609_-111+4615del
XR_946560.3:n.356_362del
NM_001918.4:c.339_345del	NP_001909.3:p.Tyr114GlufsTer10
NM_001918.5:c.339_345del MANE Select	NP_001909.4:p.Tyr114GlufsTer10
NM_001399969.1:c.-205_-199del	NP_001386898.1:n.-205_-199del
NM_001399972.1:c.-205_-199del	NP_001386901.1:n.-205_-199del
NR_174363.1:n.265+4609_265+4615del
NR_174364.1:n.353_359del
NR_174365.1:n.353_359del
NR_174366.1:n.353_359del

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