Canonical Allele Identifier: CA541348104

Gene: BTD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15645836del , CM000665.2:g.15645836del	GRCh38
NC_000003.11:g.15687343del , CM000665.1:g.15687343del	GRCh37
NC_000003.10:g.15662347del	NCBI36
NG_008019.1:g.49089del
NG_008019.2:g.49485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.400-3675del	ENSP00000500069.2:n.400-3675del
ENST00000672892.2:c.1015+905del	ENSP00000499944.2:n.1015+905del
ENST00000643237.3:c.*348del MANE Select	ENSP00000495254.2:n.*348del
ENST00000671928.1:c.166-3675del	ENSP00000500069.1:n.166-3675del
ENST00000672141.1:c.399+3779del	ENSP00000500210.1:n.399+3779del
ENST00000672427.1:c.1015+905del	ENSP00000500131.1:n.1015+905del
ENST00000672760.1:c.399+3779del	ENSP00000500530.1:n.399+3779del
ENST00000672892.1:c.793+905del	ENSP00000499944.1:n.793+905del
ENST00000673467.1:c.399+3779del	ENSP00000500288.1:n.399+3779del
ENST00000673620.1:c.399+3779del	ENSP00000500325.1:n.399+3779del
XM_006713314.2:c.*348del	XP_006713377.1:n.*348del
XM_011534041.1:c.*348del	XP_011532343.1:n.*348del
NM_000060.4:c.*348del	NP_000051.1:n.*348del
NM_001281723.2:c.*348del	NP_001268652.1:n.*348del
NM_001281724.2:c.*348del	NP_001268653.1:n.*348del
NM_001281725.2:c.*348del	NP_001268654.1:n.*348del
NM_001323582.1:c.*348del	NP_001310511.1:n.*348del
XM_011534041.2:c.*348del	XP_011532343.1:n.*348del
XM_017007088.1:c.*348del	XP_016862577.1:n.*348del
XM_024453724.1:c.*348del	XP_024309492.1:n.*348del
NM_001281723.3:c.*348del	NP_001268652.2:n.*348del
NM_001281724.3:c.*348del	NP_001268653.2:n.*348del
NM_001370658.1:c.*348del MANE Select	NP_001357587.1:n.*348del
NM_001370752.1:c.1015+905del	NP_001357681.1:n.1015+905del
NM_001370753.1:c.399+3779del	NP_001357682.1:n.399+3779del
NM_001281726.2:c.*3698del	NP_001268655.2:n.*3698del