Canonical Allele Identifier: CA1347655843

Gene: BTD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15602183_15602184delinsTG , CM000665.2:g.15602183_15602184delinsTG	GRCh38
NC_000003.11:g.15643690_15643691delinsTG , CM000665.1:g.15643690_15643691delinsTG	GRCh37
NC_000003.10:g.15618694_15618695delinsTG	NCBI36
NG_008019.1:g.5436_5437delinsTG
NG_008019.2:g.5832_5833delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.-144_-143delinsTG	ENSP00000394277.2:n.-144_-143delinsTG
ENST00000671928.2:c.-17+289_-17+290delinsTG	ENSP00000500069.2:n.-17+289_-17+290delinsTG
ENST00000672892.2:c.-17+289_-17+290delinsTG	ENSP00000499944.2:n.-17+289_-17+290delinsTG
ENST00000303498.10:c.-293+289_-293+290delinsTG	ENSP00000306477.6:n.-293+289_-293+290delinsTG
ENST00000417015.3:c.-17+289_-17+290delinsTG	ENSP00000403775.3:n.-17+289_-17+290delinsTG
ENST00000427382.2:c.-17+536_-17+537delinsTG	ENSP00000397113.2:n.-17+536_-17+537delinsTG
ENST00000437172.6:c.-205+289_-205+290delinsTG	ENSP00000400995.2:n.-205+289_-205+290delinsTG
ENST00000449107.7:c.-17+413_-17+414delinsTG	ENSP00000388212.2:n.-17+413_-17+414delinsTG
ENST00000467027.6:n.420_421delinsTG
ENST00000642517.1:n.46_47delinsTG
ENST00000643237.3:c.-17+289_-17+290delinsTG MANE Select	ENSP00000495254.2:n.-17+289_-17+290delinsTG
ENST00000646371.1:c.-293+413_-293+414delinsTG	ENSP00000495866.1:n.-293+413_-293+414delinsTG
ENST00000672065.1:c.44+289_44+290delinsTG	ENSP00000500403.1:n.44+289_44+290delinsTG
ENST00000672112.1:c.-139+289_-139+290delinsTG	ENSP00000500193.1:n.-139+289_-139+290delinsTG
ENST00000672141.1:c.-17+289_-17+290delinsTG	ENSP00000500210.1:n.-17+289_-17+290delinsTG
ENST00000672336.1:c.-420_-419delinsTG	ENSP00000500267.1:n.-420_-419delinsTG
ENST00000672427.1:c.-17+289_-17+290delinsTG	ENSP00000500131.1:n.-17+289_-17+290delinsTG
ENST00000672760.1:c.-17+289_-17+290delinsTG	ENSP00000500530.1:n.-17+289_-17+290delinsTG
ENST00000672968.1:n.20+413_20+414delinsTG
ENST00000673467.1:c.-17+289_-17+290delinsTG	ENSP00000500288.1:n.-17+289_-17+290delinsTG
ENST00000673620.1:c.-17+413_-17+414delinsTG	ENSP00000500325.1:n.-17+413_-17+414delinsTG
ENST00000303498.9:c.44+289_44+290delinsTG	ENSP00000306477.5:n.44+289_44+290delinsTG
ENST00000383778.5:c.-144_-143delinsTG	ENSP00000373288.4:n.-144_-143delinsTG
ENST00000417015.1:c.*295+289_*295+290delinsTG	ENSP00000403775.1:n.*295+289_*295+290delinsTG
ENST00000427382.1:c.-17+536_-17+537delinsTG	ENSP00000397113.1:n.-17+536_-17+537delinsTG
ENST00000436193.5:c.-144_-143delinsTG	ENSP00000394277.1:n.-144_-143delinsTG
ENST00000437172.5:c.-139+289_-139+290delinsTG	ENSP00000400995.1:n.-139+289_-139+290delinsTG
ENST00000449107.5:c.50+413_50+414delinsTG	ENSP00000388212.1:n.50+413_50+414delinsTG
ENST00000467027.5:n.94+289_94+290delinsTG
ENST00000471964.5:n.171_172delinsTG
ENST00000480711.1:n.147+289_147+290delinsTG
ENST00000494021.1:n.401+413_401+414delinsTG
NM_000060.3:c.44+289_44+290delinsTG	NP_000051.1:n.44+289_44+290delinsTG
NM_001281723.1:c.50+413_50+414delinsTG	NP_001268652.1:n.50+413_50+414delinsTG
NM_001281724.1:c.-139+289_-139+290delinsTG	NP_001268653.1:n.-139+289_-139+290delinsTG
NM_001281725.1:c.-144_-143delinsTG	NP_001268654.1:n.-144_-143delinsTG
NM_001281726.1:c.44+289_44+290delinsTG	NP_001268655.1:n.44+289_44+290delinsTG
XM_006713314.2:c.-293+289_-293+290delinsTG	XP_006713377.1:n.-293+289_-293+290delinsTG
XM_011534041.1:c.-144_-143delinsTG	XP_011532343.1:n.-144_-143delinsTG
NM_000060.4:c.44+289_44+290delinsTG	NP_000051.1:n.44+289_44+290delinsTG
NM_001281723.2:c.50+413_50+414delinsTG	NP_001268652.1:n.50+413_50+414delinsTG
NM_001281724.2:c.-139+289_-139+290delinsTG	NP_001268653.1:n.-139+289_-139+290delinsTG
NM_001281725.2:c.-144_-143delinsTG	NP_001268654.1:n.-144_-143delinsTG
NM_001323582.1:c.-293+289_-293+290delinsTG	NP_001310511.1:n.-293+289_-293+290delinsTG
XM_011534041.2:c.-144_-143delinsTG	XP_011532343.1:n.-144_-143delinsTG
XM_017007088.1:c.-420_-419delinsTG	XP_016862577.1:n.-420_-419delinsTG
NM_001281723.3:c.-17+413_-17+414delinsTG	NP_001268652.2:n.-17+413_-17+414delinsTG
NM_001281724.3:c.-205+289_-205+290delinsTG	NP_001268653.2:n.-205+289_-205+290delinsTG
NM_001370658.1:c.-17+289_-17+290delinsTG MANE Select	NP_001357587.1:n.-17+289_-17+290delinsTG
NM_001370752.1:c.-17+289_-17+290delinsTG	NP_001357681.1:n.-17+289_-17+290delinsTG
NM_001370753.1:c.-17+289_-17+290delinsTG	NP_001357682.1:n.-17+289_-17+290delinsTG
NM_001281726.2:c.-17+289_-17+290delinsTG	NP_001268655.2:n.-17+289_-17+290delinsTG