Canonical Allele Identifier: CA16040909
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 370847
ClinVar RCV Id: RCV000411926
dbSNP Id: rs1057516812

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15635486dup , CM000665.2:g.15635486dup GRCh38
NC_000003.11:g.15676993dup , CM000665.1:g.15676993dup GRCh37
NC_000003.10:g.15651997dup NCBI36
NG_008019.1:g.38739dup
NG_008019.2:g.39135dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303498.10:c.47dup ENSP00000306477.6:p.Tyr16Ter
ENST00000417015.3:c.47dup ENSP00000403775.3:p.Tyr16Ter
ENST00000427382.2:c.47dup ENSP00000397113.2:p.Tyr16Ter
ENST00000437172.6:c.47dup ENSP00000400995.2:p.Tyr16Ter
ENST00000449107.7:c.47dup ENSP00000388212.2:p.Tyr16Ter
ENST00000467027.6:n.886dup
ENST00000482824.2:c.47dup ENSP00000494864.1:p.Tyr16Ter
ENST00000643237.3:c.47dup MANE Select ENSP00000495254.2:p.Tyr16Ter
ENST00000646371.1:c.47dup ENSP00000495866.1:p.Tyr16Ter
ENST00000672065.1:c.107dup ENSP00000500403.1:p.Tyr36Ter
ENST00000672112.1:c.113dup ENSP00000500193.1:p.Tyr38Ter
ENST00000672141.1:c.47dup ENSP00000500210.1:p.Tyr16Ter
ENST00000672336.1:c.47dup ENSP00000500267.1:p.Tyr16Ter
ENST00000672427.1:c.47dup ENSP00000500131.1:p.Tyr16Ter
ENST00000672760.1:c.47dup ENSP00000500530.1:p.Tyr16Ter
ENST00000673467.1:c.47dup ENSP00000500288.1:p.Tyr16Ter
ENST00000673620.1:c.47dup ENSP00000500325.1:p.Tyr16Ter
ENST00000303498.9:c.107dup ENSP00000306477.5:p.Tyr36Ter
ENST00000383778.5:c.47dup ENSP00000373288.4:p.Tyr16Ter
ENST00000427382.1:c.47dup ENSP00000397113.1:p.Tyr16Ter
ENST00000436193.5:c.47dup ENSP00000394277.1:p.Tyr16Ter
ENST00000437172.5:c.113dup ENSP00000400995.1:p.Tyr38Ter
ENST00000449107.5:c.113dup ENSP00000388212.1:p.Tyr38Ter
ENST00000467027.5:n.433dup
ENST00000482824.1:n.182dup
ENST00000494021.1:n.464dup
NM_000060.3:c.107dup NP_000051.1:p.Tyr36Ter
NM_001281723.1:c.113dup NP_001268652.1:p.Tyr38Ter
NM_001281724.1:c.113dup NP_001268653.1:p.Tyr38Ter
NM_001281725.1:c.47dup NP_001268654.1:p.Tyr16Ter
NM_001281726.1:c.107dup NP_001268655.1:p.Tyr36Ter
XM_006713314.2:c.47dup XP_006713377.1:p.Tyr16Ter
XM_011534041.1:c.47dup XP_011532343.1:p.Tyr16Ter
NM_000060.4:c.107dup NP_000051.1:p.Tyr36Ter
NM_001281723.2:c.113dup NP_001268652.1:p.Tyr38Ter
NM_001281724.2:c.113dup NP_001268653.1:p.Tyr38Ter
NM_001281725.2:c.47dup NP_001268654.1:p.Tyr16Ter
NM_001323582.1:c.47dup NP_001310511.1:p.Tyr16Ter
XM_011534041.2:c.47dup XP_011532343.1:p.Tyr16Ter
XM_017007088.1:c.47dup XP_016862577.1:p.Tyr16Ter
XM_024453724.1:c.47dup XP_024309492.1:p.Tyr16Ter
NM_001281723.3:c.47dup NP_001268652.2:p.Tyr16Ter
NM_001281724.3:c.47dup NP_001268653.2:p.Tyr16Ter
NM_001370658.1:c.47dup MANE Select NP_001357587.1:p.Tyr16Ter
NM_001370752.1:c.47dup NP_001357681.1:p.Tyr16Ter
NM_001370753.1:c.47dup NP_001357682.1:p.Tyr16Ter
NM_001281726.2:c.47dup NP_001268655.2:p.Tyr16Ter