Canonical Allele Identifier: CA2499214073

Gene: DBT

Linked Data

• ClinVar Variation Id: 1120303
• ClinVar RCV Id: RCV001450174

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206309_100206310delinsAA , CM000663.2:g.100206309_100206310delinsAA	GRCh38
NC_000001.10:g.100671865_100671866delinsAA , CM000663.1:g.100671865_100671866delinsAA	GRCh37
NC_000001.9:g.100444453_100444454delinsAA	NCBI36
NG_011852.2:g.48544_48545delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.1336-9_1336-8delinsTT	ENSP00000505544.1:n.1336-9_1336-8delinsTT...
ENST00000681780.1:c.667-9_667-8delinsTT	ENSP00000505780.1:n.667-9_667-8delinsTT
ENST00000370132.8:c.1210-9_1210-8delinsTT MANE Select	ENSP00000359151.3:n.1210-9_1210-8delinsTT...
NM_001918.3:c.1210-9_1210-8delinsTT	NP_001909.3:n.1210-9_1210-8delinsTT
XM_005270545.2:c.667-9_667-8delinsTT	XP_005270602.1:n.667-9_667-8delinsTT
XM_005270546.2:c.667-9_667-8delinsTT	XP_005270603.1:n.667-9_667-8delinsTT
XM_005270545.4:c.667-9_667-8delinsTT	XP_005270602.1:n.667-9_667-8delinsTT
XM_017000468.2:c.667-9_667-8delinsTT	XP_016855957.1:n.667-9_667-8delinsTT
XM_017000469.2:c.667-9_667-8delinsTT	XP_016855958.1:n.667-9_667-8delinsTT
NM_001918.4:c.1210-9_1210-8delinsTT	NP_001909.3:n.1210-9_1210-8delinsTT
NM_001918.5:c.1210-9_1210-8delinsTT MANE Select	NP_001909.4:n.1210-9_1210-8delinsTT
NM_001399969.1:c.667-9_667-8delinsTT	NP_001386898.1:n.667-9_667-8delinsTT
NM_001399972.1:c.667-9_667-8delinsTT	NP_001386901.1:n.667-9_667-8delinsTT
NR_174363.1:n.1042-9_1042-8delinsTT
NR_174364.1:n.1224-9_1224-8delinsTT
NR_174365.1:n.1007-9_1007-8delinsTT
NR_174366.1:n.1309-9_1309-8delinsTT