Canonical Allele Identifier: CA1004977683

Gene: DBT

Linked Data

• dbSNP Id: rs1662368969
• gnomAD v3: 1-100214523-C-CT
• gnomAD v4: 1-100214523-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214523_100214524insT , CM000663.2:g.100214523_100214524insT	GRCh38
NC_000001.10:g.100680079_100680080insT , CM000663.1:g.100680079_100680080insT	GRCh37
NC_000001.9:g.100452667_100452668insT	NCBI36
NG_011852.2:g.40330_40331insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.939+293_939+294insA	ENSP00000505544.1:n.939+293_939+294insA
ENST00000681780.1:c.396+293_396+294insA	ENSP00000505780.1:n.396+293_396+294insA
ENST00000370131.3:c.939+293_939+294insA	ENSP00000359150.3:n.939+293_939+294insA
ENST00000370132.8:c.939+293_939+294insA MANE Select	ENSP00000359151.3:n.939+293_939+294insA
NM_001918.3:c.939+293_939+294insA	NP_001909.3:n.939+293_939+294insA
XM_005270545.2:c.396+293_396+294insA	XP_005270602.1:n.396+293_396+294insA
XM_005270546.2:c.396+293_396+294insA	XP_005270603.1:n.396+293_396+294insA
XR_946560.1:n.959+293_959+294insA
XM_005270545.4:c.396+293_396+294insA	XP_005270602.1:n.396+293_396+294insA
XM_017000468.2:c.396+293_396+294insA	XP_016855957.1:n.396+293_396+294insA
XM_017000469.2:c.396+293_396+294insA	XP_016855958.1:n.396+293_396+294insA
XR_946560.3:n.956+293_956+294insA
NM_001918.4:c.939+293_939+294insA	NP_001909.3:n.939+293_939+294insA
NM_001918.5:c.939+293_939+294insA MANE Select	NP_001909.4:n.939+293_939+294insA
NM_001399969.1:c.396+293_396+294insA	NP_001386898.1:n.396+293_396+294insA
NM_001399972.1:c.396+293_396+294insA	NP_001386901.1:n.396+293_396+294insA
NR_174363.1:n.771+293_771+294insA
NR_174364.1:n.953+293_953+294insA
NR_174365.1:n.736+293_736+294insA
NR_174366.1:n.953+293_953+294insA