Canonical Allele Identifier: CA1347664666

Gene: BTD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15644907_15644908delinsAC , CM000665.2:g.15644907_15644908delinsAC	GRCh38
NC_000003.11:g.15686414_15686415delinsAC , CM000665.1:g.15686414_15686415delinsAC	GRCh37
NC_000003.10:g.15661418_15661419delinsAC	NCBI36
NG_008019.1:g.48160_48161delinsAC
NG_008019.2:g.48556_48557delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.991_992delinsAC	ENSP00000394277.2:p.Thr331=
ENST00000671928.2:c.399+2850_399+2851delinsAC	ENSP00000500069.2:n.399+2850_399+2851delinsAC
ENST00000672892.2:c.991_992delinsAC	ENSP00000499944.2:p.Thr331=
ENST00000303498.10:c.991_992delinsAC	ENSP00000306477.6:p.Thr331=
ENST00000427382.2:c.991_992delinsAC	ENSP00000397113.2:p.Thr331=
ENST00000437172.6:c.991_992delinsAC	ENSP00000400995.2:p.Thr331=
ENST00000449107.7:c.991_992delinsAC	ENSP00000388212.2:p.Thr331=
ENST00000643237.3:c.991_992delinsAC MANE Select	ENSP00000495254.2:p.Thr331=
ENST00000646371.1:c.991_992delinsAC	ENSP00000495866.1:p.Thr331=
ENST00000671928.1:c.165+2850_165+2851delinsAC	ENSP00000500069.1:n.165+2850_165+2851delinsAC
ENST00000672065.1:c.1051_1052delinsAC	ENSP00000500403.1:p.Thr351=
ENST00000672112.1:c.1057_1058delinsAC	ENSP00000500193.1:p.Thr353=
ENST00000672141.1:c.399+2850_399+2851delinsAC	ENSP00000500210.1:n.399+2850_399+2851delinsAC
ENST00000672427.1:c.991_992delinsAC	ENSP00000500131.1:p.Thr331=
ENST00000672760.1:c.399+2850_399+2851delinsAC	ENSP00000500530.1:n.399+2850_399+2851delinsAC
ENST00000672892.1:c.769_770delinsAC	ENSP00000499944.1:p.Thr257=
ENST00000673467.1:c.399+2850_399+2851delinsAC	ENSP00000500288.1:n.399+2850_399+2851delinsAC
ENST00000673620.1:c.399+2850_399+2851delinsAC	ENSP00000500325.1:n.399+2850_399+2851delinsAC
ENST00000303498.9:c.1051_1052delinsAC	ENSP00000306477.5:p.Thr351=
ENST00000383778.5:c.991_992delinsAC	ENSP00000373288.4:p.Thr331=
ENST00000437172.5:c.1057_1058delinsAC	ENSP00000400995.1:p.Thr353=
ENST00000449107.5:c.1057_1058delinsAC	ENSP00000388212.1:p.Thr353=
NM_000060.3:c.1051_1052delinsAC	NP_000051.1:p.Thr351=
NM_001281723.1:c.1057_1058delinsAC	NP_001268652.1:p.Thr353=
NM_001281724.1:c.1057_1058delinsAC	NP_001268653.1:p.Thr353=
NM_001281725.1:c.991_992delinsAC	NP_001268654.1:p.Thr331=
XM_006713314.2:c.991_992delinsAC	XP_006713377.1:p.Thr331=
XM_011534041.1:c.991_992delinsAC	XP_011532343.1:p.Thr331=
NM_000060.4:c.1051_1052delinsAC	NP_000051.1:p.Thr351=
NM_001281723.2:c.1057_1058delinsAC	NP_001268652.1:p.Thr353=
NM_001281724.2:c.1057_1058delinsAC	NP_001268653.1:p.Thr353=
NM_001281725.2:c.991_992delinsAC	NP_001268654.1:p.Thr331=
NM_001323582.1:c.991_992delinsAC	NP_001310511.1:p.Thr331=
XM_011534041.2:c.991_992delinsAC	XP_011532343.1:p.Thr331=
XM_017007088.1:c.991_992delinsAC	XP_016862577.1:p.Thr331=
XM_024453724.1:c.991_992delinsAC	XP_024309492.1:p.Thr331=
NM_001281723.3:c.991_992delinsAC	NP_001268652.2:p.Thr331=
NM_001281724.3:c.991_992delinsAC	NP_001268653.2:p.Thr331=
NM_001370658.1:c.991_992delinsAC MANE Select	NP_001357587.1:p.Thr331=
NM_001370752.1:c.991_992delinsAC	NP_001357681.1:p.Thr331=
NM_001370753.1:c.399+2850_399+2851delinsAC	NP_001357682.1:n.399+2850_399+2851delinsAC
NM_001281726.2:c.*2769_*2770delinsAC	NP_001268655.2:n.*2769_*2770delinsAC