Canonical Allele Identifier: CA2277352

Gene: BTD

Linked Data

• ClinVar Variation Id: 590811
• ClinVar RCV Id: RCV000721974
• dbSNP Id: rs780874850
• ExAC: 3:15685999 AC / A
• gnomAD v2: 3-15685999-AC-A
• gnomAD v4: 3-15644492-AC-A
• MyVariant Identifiers: chr3:g.15686000del (hg19) ; chr3:g.15644493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15644493del , CM000665.2:g.15644493del	GRCh38
NC_000003.11:g.15686000del , CM000665.1:g.15686000del	GRCh37
NC_000003.10:g.15661004del	NCBI36
NG_008019.1:g.47746del
NG_008019.2:g.48142del

Transcript Alleles

HGVS	Amino-acid change
ENST00000436193.6:c.577del	ENSP00000394277.2:p.His193ThrfsTer?
ENST00000671928.2:c.399+2436del	ENSP00000500069.2:n.399+2436del
ENST00000672892.2:c.577del	ENSP00000499944.2:p.His193ThrfsTer?
ENST00000303498.10:c.577del	ENSP00000306477.6:p.His193ThrfsTer?
ENST00000427382.2:c.577del	ENSP00000397113.2:p.His193ThrfsTer?
ENST00000437172.6:c.577del	ENSP00000400995.2:p.His193ThrfsTer?
ENST00000449107.7:c.577del	ENSP00000388212.2:p.His193ThrfsTer?
ENST00000643237.3:c.577del MANE Select	ENSP00000495254.2:p.His193ThrfsTer?
ENST00000646371.1:c.577del	ENSP00000495866.1:p.His193ThrfsTer?
ENST00000671928.1:c.165+2436del	ENSP00000500069.1:n.165+2436del
ENST00000672065.1:c.637del	ENSP00000500403.1:p.His213ThrfsTer?
ENST00000672112.1:c.643del	ENSP00000500193.1:p.His215ThrfsTer?
ENST00000672141.1:c.399+2436del	ENSP00000500210.1:n.399+2436del
ENST00000672427.1:c.577del	ENSP00000500131.1:p.His193ThrfsTer?
ENST00000672760.1:c.399+2436del	ENSP00000500530.1:n.399+2436del
ENST00000672892.1:c.355del	ENSP00000499944.1:p.His119ThrfsTer?
ENST00000673467.1:c.399+2436del	ENSP00000500288.1:n.399+2436del
ENST00000673620.1:c.399+2436del	ENSP00000500325.1:n.399+2436del
ENST00000303498.9:c.637del	ENSP00000306477.5:p.His213ThrfsTer?
ENST00000383778.5:c.577del	ENSP00000373288.4:p.His193ThrfsTer?
ENST00000436193.5:c.577del	ENSP00000394277.1:p.His193ThrfsTer?
ENST00000437172.5:c.643del	ENSP00000400995.1:p.His215ThrfsTer?
ENST00000449107.5:c.643del	ENSP00000388212.1:p.His215ThrfsTer?
NM_000060.3:c.637del	NP_000051.1:p.His213ThrfsTer?
NM_001281723.1:c.643del	NP_001268652.1:p.His215ThrfsTer?
NM_001281724.1:c.643del	NP_001268653.1:p.His215ThrfsTer?
NM_001281725.1:c.577del	NP_001268654.1:p.His193ThrfsTer?
XM_006713314.2:c.577del	XP_006713377.1:p.His193ThrfsTer?
XM_011534041.1:c.577del	XP_011532343.1:p.His193ThrfsTer?
NM_000060.4:c.637del	NP_000051.1:p.His213ThrfsTer?
NM_001281723.2:c.643del	NP_001268652.1:p.His215ThrfsTer?
NM_001281724.2:c.643del	NP_001268653.1:p.His215ThrfsTer?
NM_001281725.2:c.577del	NP_001268654.1:p.His193ThrfsTer?
NM_001323582.1:c.577del	NP_001310511.1:p.His193ThrfsTer?
XM_011534041.2:c.577del	XP_011532343.1:p.His193ThrfsTer?
XM_017007088.1:c.577del	XP_016862577.1:p.His193ThrfsTer?
XM_024453724.1:c.577del	XP_024309492.1:p.His193ThrfsTer?
NM_001281723.3:c.577del	NP_001268652.2:p.His193ThrfsTer?
NM_001281724.3:c.577del	NP_001268653.2:p.His193ThrfsTer?
NM_001370658.1:c.577del MANE Select	NP_001357587.1:p.His193ThrfsTer?
NM_001370752.1:c.577del	NP_001357681.1:p.His193ThrfsTer?
NM_001370753.1:c.399+2436del	NP_001357682.1:n.399+2436del
NM_001281726.2:c.*2355del	NP_001268655.2:n.*2355del