Canonical Allele Identifier: CA2697552562

Gene: DBT

Linked Data

• ClinVar Variation Id: 2755871
• ClinVar RCV Id: RCV003524570

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206436_100206437dup , CM000663.2:g.100206436_100206437dup	GRCh38
NC_000001.10:g.100671992_100671993dup , CM000663.1:g.100671992_100671993dup	GRCh37
NC_000001.9:g.100444580_100444581dup	NCBI36
NG_011852.2:g.48418_48419dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.1335+9_1335+10dup	ENSP00000505544.1:n.1335+9_1335+10dup
ENST00000681780.1:c.666+9_666+10dup	ENSP00000505780.1:n.666+9_666+10dup
ENST00000370132.8:c.1209+9_1209+10dup MANE Select	ENSP00000359151.3:n.1209+9_1209+10dup
NM_001918.3:c.1209+9_1209+10dup	NP_001909.3:n.1209+9_1209+10dup
XM_005270545.2:c.666+9_666+10dup	XP_005270602.1:n.666+9_666+10dup
XM_005270546.2:c.666+9_666+10dup	XP_005270603.1:n.666+9_666+10dup
XM_005270545.4:c.666+9_666+10dup	XP_005270602.1:n.666+9_666+10dup
XM_017000468.2:c.666+9_666+10dup	XP_016855957.1:n.666+9_666+10dup
XM_017000469.2:c.666+9_666+10dup	XP_016855958.1:n.666+9_666+10dup
NM_001918.4:c.1209+9_1209+10dup	NP_001909.3:n.1209+9_1209+10dup
NM_001918.5:c.1209+9_1209+10dup MANE Select	NP_001909.4:n.1209+9_1209+10dup
NM_001399969.1:c.666+9_666+10dup	NP_001386898.1:n.666+9_666+10dup
NM_001399972.1:c.666+9_666+10dup	NP_001386901.1:n.666+9_666+10dup
NR_174363.1:n.1041+9_1041+10dup
NR_174364.1:n.1223+9_1223+10dup
NR_174365.1:n.1006+9_1006+10dup
NR_174366.1:n.1308+9_1308+10dup