Canonical Allele Identifier: CA2744762463
Gene: DBT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100206308_100206310del , CM000663.2:g.100206308_100206310del GRCh38
NC_000001.10:g.100671864_100671866del , CM000663.1:g.100671864_100671866del GRCh37
NC_000001.9:g.100444452_100444454del NCBI36
NG_011852.2:g.48547_48549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681617.1:c.1336-6_1336-4del ENSP00000505544.1:n.1336-6_1336-4del
ENST00000681780.1:c.667-6_667-4del ENSP00000505780.1:n.667-6_667-4del
ENST00000370132.8:c.1210-6_1210-4del MANE Select ENSP00000359151.3:n.1210-6_1210-4del
NM_001918.3:c.1210-6_1210-4del NP_001909.3:n.1210-6_1210-4del
XM_005270545.2:c.667-6_667-4del XP_005270602.1:n.667-6_667-4del
XM_005270546.2:c.667-6_667-4del XP_005270603.1:n.667-6_667-4del
XM_005270545.4:c.667-6_667-4del XP_005270602.1:n.667-6_667-4del
XM_017000468.2:c.667-6_667-4del XP_016855957.1:n.667-6_667-4del
XM_017000469.2:c.667-6_667-4del XP_016855958.1:n.667-6_667-4del
NM_001918.4:c.1210-6_1210-4del NP_001909.3:n.1210-6_1210-4del
NM_001918.5:c.1210-6_1210-4del MANE Select NP_001909.4:n.1210-6_1210-4del
NM_001399969.1:c.667-6_667-4del NP_001386898.1:n.667-6_667-4del
NM_001399972.1:c.667-6_667-4del NP_001386901.1:n.667-6_667-4del
NR_174363.1:n.1042-6_1042-4del
NR_174364.1:n.1224-6_1224-4del
NR_174365.1:n.1007-6_1007-4del
NR_174366.1:n.1309-6_1309-4del