Canonical Allele Identifier: CA1347663320

Gene: BTD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15644243_15644244delinsAC , CM000665.2:g.15644243_15644244delinsAC	GRCh38
NC_000003.11:g.15685750_15685751delinsAC , CM000665.1:g.15685750_15685751delinsAC	GRCh37
NC_000003.10:g.15660754_15660755delinsAC	NCBI36
NG_008019.1:g.47496_47497delinsAC
NG_008019.2:g.47892_47893delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.400-73_400-72delinsAC	ENSP00000394277.2:n.400-73_400-72delinsAC
ENST00000671928.2:c.399+2186_399+2187delinsAC	ENSP00000500069.2:n.399+2186_399+2187delinsAC
ENST00000672892.2:c.400-73_400-72delinsAC	ENSP00000499944.2:n.400-73_400-72delinsAC
ENST00000303498.10:c.400-73_400-72delinsAC	ENSP00000306477.6:n.400-73_400-72delinsAC
ENST00000427382.2:c.400-73_400-72delinsAC	ENSP00000397113.2:n.400-73_400-72delinsAC
ENST00000437172.6:c.400-73_400-72delinsAC	ENSP00000400995.2:n.400-73_400-72delinsAC
ENST00000449107.7:c.400-73_400-72delinsAC	ENSP00000388212.2:n.400-73_400-72delinsAC
ENST00000643237.3:c.400-73_400-72delinsAC MANE Select	ENSP00000495254.2:n.400-73_400-72delinsAC
ENST00000646371.1:c.400-73_400-72delinsAC	ENSP00000495866.1:n.400-73_400-72delinsAC
ENST00000671928.1:c.165+2186_165+2187delinsAC	ENSP00000500069.1:n.165+2186_165+2187delinsAC
ENST00000672065.1:c.460-73_460-72delinsAC	ENSP00000500403.1:n.460-73_460-72delinsAC
ENST00000672112.1:c.466-73_466-72delinsAC	ENSP00000500193.1:n.466-73_466-72delinsAC
ENST00000672141.1:c.399+2186_399+2187delinsAC	ENSP00000500210.1:n.399+2186_399+2187delinsAC
ENST00000672427.1:c.400-73_400-72delinsAC	ENSP00000500131.1:n.400-73_400-72delinsAC
ENST00000672760.1:c.399+2186_399+2187delinsAC	ENSP00000500530.1:n.399+2186_399+2187delinsAC
ENST00000672892.1:c.178-73_178-72delinsAC	ENSP00000499944.1:n.178-73_178-72delinsAC
ENST00000673467.1:c.399+2186_399+2187delinsAC	ENSP00000500288.1:n.399+2186_399+2187delinsAC
ENST00000673620.1:c.399+2186_399+2187delinsAC	ENSP00000500325.1:n.399+2186_399+2187delinsAC
ENST00000303498.9:c.460-73_460-72delinsAC	ENSP00000306477.5:n.460-73_460-72delinsAC
ENST00000383778.5:c.400-73_400-72delinsAC	ENSP00000373288.4:n.400-73_400-72delinsAC
ENST00000436193.5:c.400-73_400-72delinsAC	ENSP00000394277.1:n.400-73_400-72delinsAC
ENST00000437172.5:c.466-73_466-72delinsAC	ENSP00000400995.1:n.466-73_466-72delinsAC
ENST00000449107.5:c.466-73_466-72delinsAC	ENSP00000388212.1:n.466-73_466-72delinsAC
NM_000060.3:c.460-73_460-72delinsAC	NP_000051.1:n.460-73_460-72delinsAC
NM_001281723.1:c.466-73_466-72delinsAC	NP_001268652.1:n.466-73_466-72delinsAC
NM_001281724.1:c.466-73_466-72delinsAC	NP_001268653.1:n.466-73_466-72delinsAC
NM_001281725.1:c.400-73_400-72delinsAC	NP_001268654.1:n.400-73_400-72delinsAC
XM_006713314.2:c.400-73_400-72delinsAC	XP_006713377.1:n.400-73_400-72delinsAC
XM_011534041.1:c.400-73_400-72delinsAC	XP_011532343.1:n.400-73_400-72delinsAC
NM_000060.4:c.460-73_460-72delinsAC	NP_000051.1:n.460-73_460-72delinsAC
NM_001281723.2:c.466-73_466-72delinsAC	NP_001268652.1:n.466-73_466-72delinsAC
NM_001281724.2:c.466-73_466-72delinsAC	NP_001268653.1:n.466-73_466-72delinsAC
NM_001281725.2:c.400-73_400-72delinsAC	NP_001268654.1:n.400-73_400-72delinsAC
NM_001323582.1:c.400-73_400-72delinsAC	NP_001310511.1:n.400-73_400-72delinsAC
XM_011534041.2:c.400-73_400-72delinsAC	XP_011532343.1:n.400-73_400-72delinsAC
XM_017007088.1:c.400-73_400-72delinsAC	XP_016862577.1:n.400-73_400-72delinsAC
XM_024453724.1:c.400-73_400-72delinsAC	XP_024309492.1:n.400-73_400-72delinsAC
NM_001281723.3:c.400-73_400-72delinsAC	NP_001268652.2:n.400-73_400-72delinsAC
NM_001281724.3:c.400-73_400-72delinsAC	NP_001268653.2:n.400-73_400-72delinsAC
NM_001370658.1:c.400-73_400-72delinsAC MANE Select	NP_001357587.1:n.400-73_400-72delinsAC
NM_001370752.1:c.400-73_400-72delinsAC	NP_001357681.1:n.400-73_400-72delinsAC
NM_001370753.1:c.399+2186_399+2187delinsAC	NP_001357682.1:n.399+2186_399+2187delinsAC
NM_001281726.2:c.*2105_*2106delinsAC	NP_001268655.2:n.*2105_*2106delinsAC