Canonical Allele Identifier: CA16040910

Gene: BTD

Linked Data

• ClinVar Variation Id: 370087
• ClinVar RCV Id: RCV000410710
• dbSNP Id: rs1057516223
• MyVariant Identifiers: chr3:g.15683477_15683480dupCATT (hg19) ; chr3:g.15641970_15641973dupCATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15641970_15641973dup , CM000665.2:g.15641970_15641973dup	GRCh38
NC_000003.11:g.15683477_15683480dup , CM000665.1:g.15683477_15683480dup	GRCh37
NC_000003.10:g.15658481_15658484dup	NCBI36
NG_008019.1:g.45223_45226dup
NG_008019.2:g.45619_45622dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.312_315dup	ENSP00000394277.2:p.Tyr106HisfsTer27
ENST00000671928.2:c.312_315dup	ENSP00000500069.2:p.Tyr106HisfsTer27
ENST00000672892.2:c.312_315dup	ENSP00000499944.2:p.Tyr106HisfsTer27
ENST00000303498.10:c.312_315dup	ENSP00000306477.6:p.Tyr106HisfsTer27
ENST00000417015.3:c.312_315dup	ENSP00000403775.3:p.Tyr106HisfsTer27
ENST00000427382.2:c.312_315dup	ENSP00000397113.2:p.Tyr106HisfsTer27
ENST00000437172.6:c.312_315dup	ENSP00000400995.2:p.Tyr106HisfsTer27
ENST00000449107.7:c.312_315dup	ENSP00000388212.2:p.Tyr106HisfsTer27
ENST00000467027.6:n.1151_1154dup
ENST00000482824.2:c.312_315dup	ENSP00000494864.1:p.Tyr106HisfsTer27
ENST00000643237.3:c.312_315dup MANE Select	ENSP00000495254.2:p.Tyr106HisfsTer27
ENST00000646371.1:c.312_315dup	ENSP00000495866.1:p.Tyr106HisfsTer27
ENST00000671928.1:c.78_81dup	ENSP00000500069.1:p.Tyr28HisfsTer27
ENST00000672065.1:c.372_375dup	ENSP00000500403.1:p.Tyr126HisfsTer27
ENST00000672112.1:c.378_381dup	ENSP00000500193.1:p.Tyr128HisfsTer27
ENST00000672141.1:c.312_315dup	ENSP00000500210.1:p.Tyr106HisfsTer27
ENST00000672336.1:c.312_315dup	ENSP00000500267.1:p.Tyr106HisfsTer27
ENST00000672427.1:c.312_315dup	ENSP00000500131.1:p.Tyr106HisfsTer27
ENST00000672760.1:c.312_315dup	ENSP00000500530.1:p.Tyr106HisfsTer27
ENST00000672892.1:c.90_93dup	ENSP00000499944.1:p.Tyr32HisfsTer27
ENST00000673467.1:c.312_315dup	ENSP00000500288.1:p.Tyr106HisfsTer27
ENST00000673620.1:c.312_315dup	ENSP00000500325.1:p.Tyr106HisfsTer27
ENST00000303498.9:c.372_375dup	ENSP00000306477.5:p.Tyr126HisfsTer27
ENST00000383778.5:c.312_315dup	ENSP00000373288.4:p.Tyr106HisfsTer27
ENST00000436193.5:c.312_315dup	ENSP00000394277.1:p.Tyr106HisfsTer27
ENST00000437172.5:c.378_381dup	ENSP00000400995.1:p.Tyr128HisfsTer27
ENST00000449107.5:c.378_381dup	ENSP00000388212.1:p.Tyr128HisfsTer27
ENST00000482824.1:n.447_450dup
NM_000060.3:c.372_375dup	NP_000051.1:p.Tyr126HisfsTer27
NM_001281723.1:c.378_381dup	NP_001268652.1:p.Tyr128HisfsTer27
NM_001281724.1:c.378_381dup	NP_001268653.1:p.Tyr128HisfsTer27
NM_001281725.1:c.312_315dup	NP_001268654.1:p.Tyr106HisfsTer27
NM_001281726.1:c.372_375dup	NP_001268655.1:p.Tyr126HisfsTer27
XM_006713314.2:c.312_315dup	XP_006713377.1:p.Tyr106HisfsTer27
XM_011534041.1:c.312_315dup	XP_011532343.1:p.Tyr106HisfsTer27
NM_000060.4:c.372_375dup	NP_000051.1:p.Tyr126HisfsTer27
NM_001281723.2:c.378_381dup	NP_001268652.1:p.Tyr128HisfsTer27
NM_001281724.2:c.378_381dup	NP_001268653.1:p.Tyr128HisfsTer27
NM_001281725.2:c.312_315dup	NP_001268654.1:p.Tyr106HisfsTer27
NM_001323582.1:c.312_315dup	NP_001310511.1:p.Tyr106HisfsTer27
XM_011534041.2:c.312_315dup	XP_011532343.1:p.Tyr106HisfsTer27
XM_017007088.1:c.312_315dup	XP_016862577.1:p.Tyr106HisfsTer27
XM_024453724.1:c.312_315dup	XP_024309492.1:p.Tyr106HisfsTer27
NM_001281723.3:c.312_315dup	NP_001268652.2:p.Tyr106HisfsTer27
NM_001281724.3:c.312_315dup	NP_001268653.2:p.Tyr106HisfsTer27
NM_001370658.1:c.312_315dup MANE Select	NP_001357587.1:p.Tyr106HisfsTer27
NM_001370752.1:c.312_315dup	NP_001357681.1:p.Tyr106HisfsTer27
NM_001370753.1:c.312_315dup	NP_001357682.1:p.Tyr106HisfsTer27
NM_001281726.2:c.312_315dup	NP_001268655.2:p.Tyr106HisfsTer27