Canonical Allele Identifier: CA2646763420

Gene: DBT

Linked Data

• gnomAD v4: 1-100214754-CAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214757_100214759del , CM000663.2:g.100214757_100214759del	GRCh38
NC_000001.10:g.100680313_100680315del , CM000663.1:g.100680313_100680315del	GRCh37
NC_000001.9:g.100452901_100452903del	NCBI36
NG_011852.2:g.40097_40099del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.939+60_939+62del	ENSP00000505544.1:n.939+60_939+62del
ENST00000681780.1:c.396+60_396+62del	ENSP00000505780.1:n.396+60_396+62del
ENST00000370131.3:c.939+60_939+62del	ENSP00000359150.3:n.939+60_939+62del
ENST00000370132.8:c.939+60_939+62del MANE Select	ENSP00000359151.3:n.939+60_939+62del
NM_001918.3:c.939+60_939+62del	NP_001909.3:n.939+60_939+62del
XM_005270545.2:c.396+60_396+62del	XP_005270602.1:n.396+60_396+62del
XM_005270546.2:c.396+60_396+62del	XP_005270603.1:n.396+60_396+62del
XR_946560.1:n.959+60_959+62del
XM_005270545.4:c.396+60_396+62del	XP_005270602.1:n.396+60_396+62del
XM_017000468.2:c.396+60_396+62del	XP_016855957.1:n.396+60_396+62del
XM_017000469.2:c.396+60_396+62del	XP_016855958.1:n.396+60_396+62del
XR_946560.3:n.956+60_956+62del
NM_001918.4:c.939+60_939+62del	NP_001909.3:n.939+60_939+62del
NM_001918.5:c.939+60_939+62del MANE Select	NP_001909.4:n.939+60_939+62del
NM_001399969.1:c.396+60_396+62del	NP_001386898.1:n.396+60_396+62del
NM_001399972.1:c.396+60_396+62del	NP_001386901.1:n.396+60_396+62del
NR_174363.1:n.771+60_771+62del
NR_174364.1:n.953+60_953+62del
NR_174365.1:n.736+60_736+62del
NR_174366.1:n.953+60_953+62del