Canonical Allele Identifier: CA2831039327

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214838_100214839delinsA , CM000663.2:g.100214838_100214839delinsA	GRCh38
NC_000001.10:g.100680394_100680395delinsA , CM000663.1:g.100680394_100680395delinsA	GRCh37
NC_000001.9:g.100452982_100452983delinsA	NCBI36
NG_011852.2:g.40015_40016delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.917_918delinsT	ENSP00000505544.1:p.Ser306PhefsTer7
ENST00000681780.1:c.374_375delinsT	ENSP00000505780.1:p.Ser125PhefsTer7
ENST00000370131.3:c.917_918delinsT	ENSP00000359150.3:p.Ser306PhefsTer7
ENST00000370132.8:c.917_918delinsT MANE Select	ENSP00000359151.3:p.Ser306PhefsTer7
NM_001918.3:c.917_918delinsT	NP_001909.3:p.Ser306PhefsTer7
XM_005270545.2:c.374_375delinsT	XP_005270602.1:p.Ser125PhefsTer7
XM_005270546.2:c.374_375delinsT	XP_005270603.1:p.Ser125PhefsTer7
XR_946560.1:n.937_938delinsT
XM_005270545.4:c.374_375delinsT	XP_005270602.1:p.Ser125PhefsTer7
XM_017000468.2:c.374_375delinsT	XP_016855957.1:p.Ser125PhefsTer7
XM_017000469.2:c.374_375delinsT	XP_016855958.1:p.Ser125PhefsTer7
XR_946560.3:n.934_935delinsT
NM_001918.4:c.917_918delinsT	NP_001909.3:p.Ser306PhefsTer7
NM_001918.5:c.917_918delinsT MANE Select	NP_001909.4:p.Ser306PhefsTer7
NM_001399969.1:c.374_375delinsT	NP_001386898.1:p.Ser125PhefsTer7
NM_001399972.1:c.374_375delinsT	NP_001386901.1:p.Ser125PhefsTer7
NR_174363.1:n.749_750delinsT
NR_174364.1:n.931_932delinsT
NR_174365.1:n.714_715delinsT
NR_174366.1:n.931_932delinsT