Canonical Allele Identifier: CA212934
Gene: DBT HGNC NCBI
gnomAD v2:
1:100706415 CAT / C
gnomAD v3:
1:100240859 CAT / C
gnomAD v4:
chr1-100240859-CAT-C
Joint Max Group AF 0.00003858 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003892 (NFE)
ClinVar RCV:
RCV000012728
RCV000626239
ClinVar Variation:
11950
dbSNP:
768832921
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100240860_100240861del , CM000663.2:g.100240860_100240861del GRCh38
NC_000001.10:g.100706416_100706417del , CM000663.1:g.100706416_100706417del GRCh37
NC_000001.9:g.100479004_100479005del NCBI36
NG_011852.2:g.13993_13994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681617.1:c.75_76del ENSP00000505544.1:p.Cys26TrpfsTer2
ENST00000681780.1:c.-469_-468del ENSP00000505780.1:n.-469_-468del
ENST00000370131.3:c.75_76del ENSP00000359150.3:p.Cys26TrpfsTer2
ENST00000370132.8:c.75_76del MANE Select ENSP00000359151.3:p.Cys26TrpfsTer2
NM_001918.3:c.75_76del NP_001909.3:p.Cys26TrpfsTer2
XM_005270545.2:c.-469_-468del XP_005270602.1:n.-469_-468del
XR_946560.1:n.95_96del
XM_005270545.4:c.-469_-468del XP_005270602.1:n.-469_-468del
XM_017000468.2:c.-469_-468del XP_016855957.1:n.-469_-468del
XR_946560.3:n.92_93del
NM_001918.4:c.75_76del NP_001909.3:p.Cys26TrpfsTer2
NM_001918.5:c.75_76del MANE Select NP_001909.4:p.Cys26TrpfsTer2
NM_001399969.1:c.-469_-468del NP_001386898.1:n.-469_-468del
NM_001399972.1:c.-469_-468del NP_001386901.1:n.-469_-468del
NR_174363.1:n.89_90del
NR_174364.1:n.89_90del
NR_174365.1:n.89_90del
NR_174366.1:n.89_90del
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