Canonical Allele Identifier: CA913186115
Community Standard Title: NM_001918.5(DBT):c.1282-15_1282-10dup
Gene: DBT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100196454_100196459dup , CM000663.2:g.100196454_100196459dup GRCh38
NC_000001.10:g.100662010_100662015dup , CM000663.1:g.100662010_100662015dup GRCh37
NC_000001.9:g.100434598_100434603dup NCBI36
NG_011852.2:g.58417_58422dup

Transcript Alleles

HGVS Amino-acid Change
NM_001918.5:c.1282-15_1282-10dup MANE Select NP_001909.4:n.1282-15_1282-10dup
ENST00000370132.8:c.1282-15_1282-10dup MANE Select ENSP00000359151.3:n.1282-15_1282-10dup
NM_001399969.1:c.739-15_739-10dup NP_001386898.1:n.739-15_739-10dup
NM_001399972.1:c.739-15_739-10dup NP_001386901.1:n.739-15_739-10dup
NM_001918.3:c.1282-15_1282-10dup NP_001909.3:n.1282-15_1282-10dup
NM_001918.4:c.1282-15_1282-10dup NP_001909.3:n.1282-15_1282-10dup
NR_174363.1:n.1114-15_1114-10dup
NR_174364.1:n.1455-15_1455-10dup
NR_174365.1:n.1079-15_1079-10dup
NR_174366.1:n.1381-15_1381-10dup
ENST00000681617.1:c.1408-15_1408-10dup ENSP00000505544.1:n.1408-15_1408-10dup
ENST00000681780.1:c.739-15_739-10dup ENSP00000505780.1:n.739-15_739-10dup
XM_005270545.2:c.739-15_739-10dup XP_005270602.1:n.739-15_739-10dup
XM_005270545.4:c.739-15_739-10dup XP_005270602.1:n.739-15_739-10dup
XM_005270546.2:c.739-15_739-10dup XP_005270603.1:n.739-15_739-10dup
XM_017000468.2:c.739-15_739-10dup XP_016855957.1:n.739-15_739-10dup
XM_017000469.2:c.739-15_739-10dup XP_016855958.1:n.739-15_739-10dup