Canonical Allele Identifier: CA16040912
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 371418
ClinVar RCV Id: RCV000410764
dbSNP Id: rs1057517256
MyVariant Identifiers: chr3:g.15686533_15686534dupTC (hg19) chr3:g.15645026_15645027dupTC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15645026_15645027dup , CM000665.2:g.15645026_15645027dup GRCh38
NC_000003.11:g.15686533_15686534dup , CM000665.1:g.15686533_15686534dup GRCh37
NC_000003.10:g.15661537_15661538dup NCBI36
NG_008019.1:g.48279_48280dup
NG_008019.2:g.48675_48676dup

Transcript Alleles

HGVS Amino-acid change
ENST00000436193.6:c.1110_1111dup ENSP00000394277.2:p.Pro371LeufsTer9
ENST00000671928.2:c.399+2969_399+2970dup ENSP00000500069.2:n.399+2969_399+2970dup
ENST00000672892.2:c.1015+95_1015+96dup ENSP00000499944.2:n.1015+95_1015+96dup
ENST00000303498.10:c.1110_1111dup ENSP00000306477.6:p.Pro371LeufsTer9
ENST00000427382.2:c.1110_1111dup ENSP00000397113.2:p.Pro371LeufsTer9
ENST00000437172.6:c.1110_1111dup ENSP00000400995.2:p.Pro371LeufsTer9
ENST00000449107.7:c.1110_1111dup ENSP00000388212.2:p.Pro371LeufsTer9
ENST00000643237.3:c.1110_1111dup MANE Select ENSP00000495254.2:p.Pro371LeufsTer9
ENST00000646371.1:c.1110_1111dup ENSP00000495866.1:p.Pro371LeufsTer9
ENST00000671928.1:c.165+2969_165+2970dup ENSP00000500069.1:n.165+2969_165+2970dup
ENST00000672065.1:c.1170_1171dup ENSP00000500403.1:p.Pro391LeufsTer9
ENST00000672112.1:c.1176_1177dup ENSP00000500193.1:p.Pro393LeufsTer9
ENST00000672141.1:c.399+2969_399+2970dup ENSP00000500210.1:n.399+2969_399+2970dup
ENST00000672427.1:c.1015+95_1015+96dup ENSP00000500131.1:n.1015+95_1015+96dup
ENST00000672760.1:c.399+2969_399+2970dup ENSP00000500530.1:n.399+2969_399+2970dup
ENST00000672892.1:c.793+95_793+96dup ENSP00000499944.1:n.793+95_793+96dup
ENST00000673467.1:c.399+2969_399+2970dup ENSP00000500288.1:n.399+2969_399+2970dup
ENST00000673620.1:c.399+2969_399+2970dup ENSP00000500325.1:n.399+2969_399+2970dup
ENST00000303498.9:c.1170_1171dup ENSP00000306477.5:p.Pro391LeufsTer9
ENST00000383778.5:c.1110_1111dup ENSP00000373288.4:p.Pro371LeufsTer9
ENST00000437172.5:c.1176_1177dup ENSP00000400995.1:p.Pro393LeufsTer9
ENST00000449107.5:c.1176_1177dup ENSP00000388212.1:p.Pro393LeufsTer9
NM_000060.3:c.1170_1171dup NP_000051.1:p.Pro391LeufsTer9
NM_001281723.1:c.1176_1177dup NP_001268652.1:p.Pro393LeufsTer9
NM_001281724.1:c.1176_1177dup NP_001268653.1:p.Pro393LeufsTer9
NM_001281725.1:c.1110_1111dup NP_001268654.1:p.Pro371LeufsTer9
XM_006713314.2:c.1110_1111dup XP_006713377.1:p.Pro371LeufsTer9
XM_011534041.1:c.1110_1111dup XP_011532343.1:p.Pro371LeufsTer9
NM_000060.4:c.1170_1171dup NP_000051.1:p.Pro391LeufsTer9
NM_001281723.2:c.1176_1177dup NP_001268652.1:p.Pro393LeufsTer9
NM_001281724.2:c.1176_1177dup NP_001268653.1:p.Pro393LeufsTer9
NM_001281725.2:c.1110_1111dup NP_001268654.1:p.Pro371LeufsTer9
NM_001323582.1:c.1110_1111dup NP_001310511.1:p.Pro371LeufsTer9
XM_011534041.2:c.1110_1111dup XP_011532343.1:p.Pro371LeufsTer9
XM_017007088.1:c.1110_1111dup XP_016862577.1:p.Pro371LeufsTer9
XM_024453724.1:c.1110_1111dup XP_024309492.1:p.Pro371LeufsTer9
NM_001281723.3:c.1110_1111dup NP_001268652.2:p.Pro371LeufsTer9
NM_001281724.3:c.1110_1111dup NP_001268653.2:p.Pro371LeufsTer9
NM_001370658.1:c.1110_1111dup MANE Select NP_001357587.1:p.Pro371LeufsTer9
NM_001370752.1:c.1015+95_1015+96dup NP_001357681.1:n.1015+95_1015+96dup
NM_001370753.1:c.399+2969_399+2970dup NP_001357682.1:n.399+2969_399+2970dup
NM_001281726.2:c.*2888_*2889dup NP_001268655.2:n.*2888_*2889dup
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