Canonical Allele Identifier: CA221890

Gene: DBT

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100230811del , CM000663.2:g.100230811del	GRCh38
NC_000001.10:g.100696367del , CM000663.1:g.100696367del	GRCh37
NC_000001.9:g.100468955del	NCBI36
NG_011852.2:g.24048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.360del	ENSP00000505544.1:p.Lys120AsnfsTer6
ENST00000681780.1:c.-184del	ENSP00000505780.1:n.-184del
ENST00000370131.3:c.360del	ENSP00000359150.3:p.Lys120AsnfsTer6
ENST00000370132.8:c.360del MANE Select	ENSP00000359151.3:p.Lys120AsnfsTer6
NM_001918.3:c.360del	NP_001909.3:p.Lys120AsnfsTer6
XM_005270545.2:c.-184del	XP_005270602.1:n.-184del
XM_005270546.2:c.-111+4630del	XP_005270603.1:n.-111+4630del
XR_946560.1:n.380del
XM_005270545.4:c.-184del	XP_005270602.1:n.-184del
XM_017000468.2:c.-184del	XP_016855957.1:n.-184del
XM_017000469.2:c.-111+4630del	XP_016855958.1:n.-111+4630del
XR_946560.3:n.377del
NM_001918.4:c.360del	NP_001909.3:p.Lys120AsnfsTer6
NM_001918.5:c.360del MANE Select	NP_001909.4:p.Lys120AsnfsTer6
NM_001399969.1:c.-184del	NP_001386898.1:n.-184del
NM_001399972.1:c.-184del	NP_001386901.1:n.-184del
NR_174363.1:n.265+4630del
NR_174364.1:n.374del
NR_174365.1:n.374del
NR_174366.1:n.374del