Canonical Allele Identifier: CA884487191

Gene: DBT

Linked Data

• dbSNP Id: rs397805697
• gnomAD v3: 1-100215051-T-TA
• gnomAD v4: 1-100215051-T-TA
• MyVariant Identifiers: chr1:g.100680607_100680608insA (hg19) ; chr1:g.100215051_100215052insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100215054dup , CM000663.2:g.100215054dup	GRCh38
NC_000001.10:g.100680610dup , CM000663.1:g.100680610dup	GRCh37
NC_000001.9:g.100453198dup	NCBI36
NG_011852.2:g.39802dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.773-69dup	ENSP00000505544.1:n.773-69dup
ENST00000681780.1:c.230-69dup	ENSP00000505780.1:n.230-69dup
ENST00000370131.3:c.773-69dup	ENSP00000359150.3:n.773-69dup
ENST00000370132.8:c.773-69dup MANE Select	ENSP00000359151.3:n.773-69dup
NM_001918.3:c.773-69dup	NP_001909.3:n.773-69dup
XM_005270545.2:c.230-69dup	XP_005270602.1:n.230-69dup
XM_005270546.2:c.230-69dup	XP_005270603.1:n.230-69dup
XR_946560.1:n.793-69dup
XM_005270545.4:c.230-69dup	XP_005270602.1:n.230-69dup
XM_017000468.2:c.230-69dup	XP_016855957.1:n.230-69dup
XM_017000469.2:c.230-69dup	XP_016855958.1:n.230-69dup
XR_946560.3:n.790-69dup
NM_001918.4:c.773-69dup	NP_001909.3:n.773-69dup
NM_001918.5:c.773-69dup MANE Select	NP_001909.4:n.773-69dup
NM_001399969.1:c.230-69dup	NP_001386898.1:n.230-69dup
NM_001399972.1:c.230-69dup	NP_001386901.1:n.230-69dup
NR_174363.1:n.605-69dup
NR_174364.1:n.787-69dup
NR_174365.1:n.570-69dup
NR_174366.1:n.787-69dup