Canonical Allele Identifier: CA245052

Gene: BTD

Linked Data

• ClinVar Variation Id: 25010
• ClinVar RCV Id: RCV000021929 ; RCV000178030
• dbSNP Id: rs397514361
• ExAC: 3:15685808 C / CT
• gnomAD v2: 3-15685808-C-CT
• gnomAD v3: 3-15644301-C-CT
• gnomAD v4: 3-15644301-C-CT
• MyVariant Identifiers: chr3:g.15685815dupT (hg19) ; chr3:g.15685809_15685810insT (hg19) ; chr3:g.15685808_15685809insT (hg19) ; chr3:g.15644308dupT (hg38) ; chr3:g.15644302_15644303insT (hg38) ; chr3:g.15644301_15644302insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15644308dup , CM000665.2:g.15644308dup	GRCh38
NC_000003.11:g.15685815dup , CM000665.1:g.15685815dup	GRCh37
NC_000003.10:g.15660819dup	NCBI36
NG_008019.1:g.47561dup
NG_008019.2:g.47957dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000436193.6:c.400-8dup	ENSP00000394277.2:n.400-8dup
ENST00000671928.2:c.399+2251dup	ENSP00000500069.2:n.399+2251dup
ENST00000672892.2:c.400-8dup	ENSP00000499944.2:n.400-8dup
ENST00000303498.10:c.400-8dup	ENSP00000306477.6:n.400-8dup
ENST00000427382.2:c.400-8dup	ENSP00000397113.2:n.400-8dup
ENST00000437172.6:c.400-8dup	ENSP00000400995.2:n.400-8dup
ENST00000449107.7:c.400-8dup	ENSP00000388212.2:n.400-8dup
ENST00000643237.3:c.400-8dup MANE Select	ENSP00000495254.2:n.400-8dup
ENST00000646371.1:c.400-8dup	ENSP00000495866.1:n.400-8dup
ENST00000671928.1:c.165+2251dup	ENSP00000500069.1:n.165+2251dup
ENST00000672065.1:c.460-8dup	ENSP00000500403.1:n.460-8dup
ENST00000672112.1:c.466-8dup	ENSP00000500193.1:n.466-8dup
ENST00000672141.1:c.399+2251dup	ENSP00000500210.1:n.399+2251dup
ENST00000672427.1:c.400-8dup	ENSP00000500131.1:n.400-8dup
ENST00000672760.1:c.399+2251dup	ENSP00000500530.1:n.399+2251dup
ENST00000672892.1:c.178-8dup	ENSP00000499944.1:n.178-8dup
ENST00000673467.1:c.399+2251dup	ENSP00000500288.1:n.399+2251dup
ENST00000673620.1:c.399+2251dup	ENSP00000500325.1:n.399+2251dup
ENST00000303498.9:c.460-8dup	ENSP00000306477.5:n.460-8dup
ENST00000383778.5:c.400-8dup	ENSP00000373288.4:n.400-8dup
ENST00000436193.5:c.400-8dup	ENSP00000394277.1:n.400-8dup
ENST00000437172.5:c.466-8dup	ENSP00000400995.1:n.466-8dup
ENST00000449107.5:c.466-8dup	ENSP00000388212.1:n.466-8dup
NM_000060.3:c.460-8dup	NP_000051.1:n.460-8dup
NM_001281723.1:c.466-8dup	NP_001268652.1:n.466-8dup
NM_001281724.1:c.466-8dup	NP_001268653.1:n.466-8dup
NM_001281725.1:c.400-8dup	NP_001268654.1:n.400-8dup
XM_006713314.2:c.400-8dup	XP_006713377.1:n.400-8dup
XM_011534041.1:c.400-8dup	XP_011532343.1:n.400-8dup
NM_000060.4:c.460-8dup	NP_000051.1:n.460-8dup
NM_001281723.2:c.466-8dup	NP_001268652.1:n.466-8dup
NM_001281724.2:c.466-8dup	NP_001268653.1:n.466-8dup
NM_001281725.2:c.400-8dup	NP_001268654.1:n.400-8dup
NM_001323582.1:c.400-8dup	NP_001310511.1:n.400-8dup
XM_011534041.2:c.400-8dup	XP_011532343.1:n.400-8dup
XM_017007088.1:c.400-8dup	XP_016862577.1:n.400-8dup
XM_024453724.1:c.400-8dup	XP_024309492.1:n.400-8dup
NM_001281723.3:c.400-8dup	NP_001268652.2:n.400-8dup
NM_001281724.3:c.400-8dup	NP_001268653.2:n.400-8dup
NM_001370658.1:c.400-8dup MANE Select	NP_001357587.1:n.400-8dup
NM_001370752.1:c.400-8dup	NP_001357681.1:n.400-8dup
NM_001370753.1:c.399+2251dup	NP_001357682.1:n.399+2251dup
NM_001281726.2:c.*2170dup	NP_001268655.2:n.*2170dup