Canonical Allele Identifier: CA10607140
Community Standard Title: NM_001918.5(DBT):c.*6114_*6115del
Gene: DBT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100190142_100190143del , CM000663.2:g.100190142_100190143del GRCh38
NC_000001.10:g.100655698_100655699del , CM000663.1:g.100655698_100655699del GRCh37
NC_000001.9:g.100428286_100428287del NCBI36
NG_011852.2:g.64713_64714del

Transcript Alleles

HGVS Amino-acid Change
NM_001918.5:c.*6114_*6115del MANE Select NP_001909.4:n.*6114_*6115del
ENST00000370132.8:c.*6114_*6115del MANE Select ENSP00000359151.3:n.*6114_*6115del
NM_001399969.1:c.*6114_*6115del NP_001386898.1:n.*6114_*6115del
NM_001399972.1:c.*6114_*6115del NP_001386901.1:n.*6114_*6115del
NM_001918.3:c.*6114_*6115del NP_001909.3:n.*6114_*6115del
NM_001918.4:c.*6114_*6115del NP_001909.3:n.*6114_*6115del
NR_174363.1:n.7395_7396del
NR_174364.1:n.7736_7737del
NR_174365.1:n.7360_7361del
NR_174366.1:n.7662_7663del