Canonical Allele Identifier: CA16040908
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 371236
ClinVar RCV Id: RCV000412426
dbSNP Id: rs1057517114

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15601895del , CM000665.2:g.15601895del GRCh38
NC_000003.11:g.15643402del , CM000665.1:g.15643402del GRCh37
NC_000003.10:g.15618406del NCBI36
NG_008019.1:g.5148del
NG_008019.2:g.5544del

Transcript Alleles

HGVS Amino-acid change
ENST00000671928.2:c.-17+1del
ENST00000672892.2:c.-17+1del
ENST00000303498.10:c.-293+1del
ENST00000417015.3:c.-17+1del
ENST00000427382.2:c.-17+248del ENSP00000397113.2:n.-17+248del
ENST00000437172.6:c.-205+1del
ENST00000449107.7:c.-17+125del ENSP00000388212.2:n.-17+125del
ENST00000467027.6:n.132del
ENST00000643237.3:c.-17+1del
ENST00000646371.1:c.-293+125del ENSP00000495866.1:n.-293+125del
ENST00000672065.1:c.44+1del
ENST00000672112.1:c.-139+1del
ENST00000672141.1:c.-17+1del
ENST00000672336.1:c.-708del ENSP00000500267.1:n.-708del
ENST00000672427.1:c.-17+1del
ENST00000672760.1:c.-17+1del
ENST00000672968.1:n.20+125del
ENST00000673467.1:c.-17+1del
ENST00000673620.1:c.-17+125del ENSP00000500325.1:n.-17+125del
ENST00000303498.9:c.44+1del
ENST00000417015.1:c.*295+1del
ENST00000427382.1:c.-17+248del ENSP00000397113.1:n.-17+248del
ENST00000437172.5:c.-139+1del
ENST00000449107.5:c.50+125del ENSP00000388212.1:n.50+125del
ENST00000467027.5:n.94+1del
ENST00000471964.5:n.124+1del
ENST00000480711.1:n.147+1del
ENST00000494021.1:n.401+125del
NM_000060.3:c.44+1del
NM_001281723.1:c.50+125del NP_001268652.1:n.50+125del
NM_001281724.1:c.-139+1del
NM_001281726.1:c.44+1del
XM_006713314.2:c.-293+1del
XM_011534041.1:c.-191+1del
NM_000060.4:c.44+1del
NM_001281723.2:c.50+125del NP_001268652.1:n.50+125del
NM_001281724.2:c.-139+1del
NM_001323582.1:c.-293+1del
XM_011534041.2:c.-191+1del
XM_017007088.1:c.-467+1del
NM_001281723.3:c.-17+125del NP_001268652.2:n.-17+125del
NM_001281724.3:c.-205+1del
NM_001370658.1:c.-17+1del
NM_001370752.1:c.-17+1del
NM_001370753.1:c.-17+1del
NM_001281726.2:c.-17+1del