Canonical Allele Identifier: CA2646763499

Gene: DBT

Linked Data

• gnomAD v4: 1-100214965-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214966_100214967del , CM000663.2:g.100214966_100214967del	GRCh38
NC_000001.10:g.100680522_100680523del , CM000663.1:g.100680522_100680523del	GRCh37
NC_000001.9:g.100453110_100453111del	NCBI36
NG_011852.2:g.39887_39888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.789_790del	ENSP00000505544.1:p.Met263IlefsTer17
ENST00000681780.1:c.246_247del	ENSP00000505780.1:p.Met82IlefsTer17
ENST00000370131.3:c.789_790del	ENSP00000359150.3:p.Met263IlefsTer17
ENST00000370132.8:c.789_790del MANE Select	ENSP00000359151.3:p.Met263IlefsTer17
NM_001918.3:c.789_790del	NP_001909.3:p.Met263IlefsTer17
XM_005270545.2:c.246_247del	XP_005270602.1:p.Met82IlefsTer17
XM_005270546.2:c.246_247del	XP_005270603.1:p.Met82IlefsTer17
XR_946560.1:n.809_810del
XM_005270545.4:c.246_247del	XP_005270602.1:p.Met82IlefsTer17
XM_017000468.2:c.246_247del	XP_016855957.1:p.Met82IlefsTer17
XM_017000469.2:c.246_247del	XP_016855958.1:p.Met82IlefsTer17
XR_946560.3:n.806_807del
NM_001918.4:c.789_790del	NP_001909.3:p.Met263IlefsTer17
NM_001918.5:c.789_790del MANE Select	NP_001909.4:p.Met263IlefsTer17
NM_001399969.1:c.246_247del	NP_001386898.1:p.Met82IlefsTer17
NM_001399972.1:c.246_247del	NP_001386901.1:p.Met82IlefsTer17
NR_174363.1:n.621_622del
NR_174364.1:n.803_804del
NR_174365.1:n.586_587del
NR_174366.1:n.803_804del