Canonical Allele Identifier: CA2580060683

Gene: DBT

Linked Data

• ClinVar Variation Id: 2122769
• ClinVar RCV Id: RCV003047031

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214957_100214958del , CM000663.2:g.100214957_100214958del	GRCh38
NC_000001.10:g.100680513_100680514del , CM000663.1:g.100680513_100680514del	GRCh37
NC_000001.9:g.100453101_100453102del	NCBI36
NG_011852.2:g.39897_39898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.799_800del	ENSP00000505544.1:p.Met267ValfsTer13
ENST00000681780.1:c.256_257del	ENSP00000505780.1:p.Met86ValfsTer13
ENST00000370131.3:c.799_800del	ENSP00000359150.3:p.Met267ValfsTer13
ENST00000370132.8:c.799_800del MANE Select	ENSP00000359151.3:p.Met267ValfsTer13
NM_001918.3:c.799_800del	NP_001909.3:p.Met267ValfsTer13
XM_005270545.2:c.256_257del	XP_005270602.1:p.Met86ValfsTer13
XM_005270546.2:c.256_257del	XP_005270603.1:p.Met86ValfsTer13
XR_946560.1:n.819_820del
XM_005270545.4:c.256_257del	XP_005270602.1:p.Met86ValfsTer13
XM_017000468.2:c.256_257del	XP_016855957.1:p.Met86ValfsTer13
XM_017000469.2:c.256_257del	XP_016855958.1:p.Met86ValfsTer13
XR_946560.3:n.816_817del
NM_001918.4:c.799_800del	NP_001909.3:p.Met267ValfsTer13
NM_001918.5:c.799_800del MANE Select	NP_001909.4:p.Met267ValfsTer13
NM_001399969.1:c.256_257del	NP_001386898.1:p.Met86ValfsTer13
NM_001399972.1:c.256_257del	NP_001386901.1:p.Met86ValfsTer13
NR_174363.1:n.631_632del
NR_174364.1:n.813_814del
NR_174365.1:n.596_597del
NR_174366.1:n.813_814del