Canonical Allele Identifier: CA913203572

Gene: BTD

Linked Data

• ClinVar Variation Id: 1411643
• ClinVar RCV Id: RCV001918868
• dbSNP Id: rs2125504798

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15645106_15645107delinsAG , CM000665.2:g.15645106_15645107delinsAG	GRCh38
NC_000003.11:g.15686613_15686614delinsAG , CM000665.1:g.15686613_15686614delinsAG	GRCh37
NC_000003.10:g.15661617_15661618delinsAG	NCBI36
NG_008019.1:g.48359_48360delinsAG
NG_008019.2:g.48755_48756delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.1190_1191delinsAG	ENSP00000394277.2:p.Val397Glu
ENST00000671928.2:c.399+3049_399+3050delinsAG	ENSP00000500069.2:n.399+3049_399+3050delinsAG
ENST00000672892.2:c.1015+175_1015+176delinsAG	ENSP00000499944.2:n.1015+175_1015+176delinsAG
ENST00000303498.10:c.1190_1191delinsAG	ENSP00000306477.6:p.Val397Glu
ENST00000427382.2:c.1190_1191delinsAG	ENSP00000397113.2:p.Val397Glu
ENST00000437172.6:c.1190_1191delinsAG	ENSP00000400995.2:p.Val397Glu
ENST00000449107.7:c.1190_1191delinsAG	ENSP00000388212.2:p.Val397Glu
ENST00000643237.3:c.1190_1191delinsAG MANE Select	ENSP00000495254.2:p.Val397Glu
ENST00000646371.1:c.1190_1191delinsAG	ENSP00000495866.1:p.Val397Glu
ENST00000671928.1:c.165+3049_165+3050delinsAG	ENSP00000500069.1:n.165+3049_165+3050delinsAG
ENST00000672065.1:c.1250_1251delinsAG	ENSP00000500403.1:p.Val417Glu
ENST00000672112.1:c.1256_1257delinsAG	ENSP00000500193.1:p.Val419Glu
ENST00000672141.1:c.399+3049_399+3050delinsAG	ENSP00000500210.1:n.399+3049_399+3050delinsAG
ENST00000672427.1:c.1015+175_1015+176delinsAG	ENSP00000500131.1:n.1015+175_1015+176delinsAG
ENST00000672760.1:c.399+3049_399+3050delinsAG	ENSP00000500530.1:n.399+3049_399+3050delinsAG
ENST00000672892.1:c.793+175_793+176delinsAG	ENSP00000499944.1:n.793+175_793+176delinsAG
ENST00000673467.1:c.399+3049_399+3050delinsAG	ENSP00000500288.1:n.399+3049_399+3050delinsAG
ENST00000673620.1:c.399+3049_399+3050delinsAG	ENSP00000500325.1:n.399+3049_399+3050delinsAG
ENST00000303498.9:c.1250_1251delinsAG	ENSP00000306477.5:p.Val417Glu
ENST00000383778.5:c.1190_1191delinsAG	ENSP00000373288.4:p.Val397Glu
ENST00000437172.5:c.1256_1257delinsAG	ENSP00000400995.1:p.Val419Glu
ENST00000449107.5:c.1256_1257delinsAG	ENSP00000388212.1:p.Val419Glu
NM_000060.3:c.1250_1251delinsAG	NP_000051.1:p.Val417Glu
NM_001281723.1:c.1256_1257delinsAG	NP_001268652.1:p.Val419Glu
NM_001281724.1:c.1256_1257delinsAG	NP_001268653.1:p.Val419Glu
NM_001281725.1:c.1190_1191delinsAG	NP_001268654.1:p.Val397Glu
XM_006713314.2:c.1190_1191delinsAG	XP_006713377.1:p.Val397Glu
XM_011534041.1:c.1190_1191delinsAG	XP_011532343.1:p.Val397Glu
NM_000060.4:c.1250_1251delinsAG	NP_000051.1:p.Val417Glu
NM_001281723.2:c.1256_1257delinsAG	NP_001268652.1:p.Val419Glu
NM_001281724.2:c.1256_1257delinsAG	NP_001268653.1:p.Val419Glu
NM_001281725.2:c.1190_1191delinsAG	NP_001268654.1:p.Val397Glu
NM_001323582.1:c.1190_1191delinsAG	NP_001310511.1:p.Val397Glu
XM_011534041.2:c.1190_1191delinsAG	XP_011532343.1:p.Val397Glu
XM_017007088.1:c.1190_1191delinsAG	XP_016862577.1:p.Val397Glu
XM_024453724.1:c.1190_1191delinsAG	XP_024309492.1:p.Val397Glu
NM_001281723.3:c.1190_1191delinsAG	NP_001268652.2:p.Val397Glu
NM_001281724.3:c.1190_1191delinsAG	NP_001268653.2:p.Val397Glu
NM_001370658.1:c.1190_1191delinsAG MANE Select	NP_001357587.1:p.Val397Glu
NM_001370752.1:c.1015+175_1015+176delinsAG	NP_001357681.1:n.1015+175_1015+176delinsAG
NM_001370753.1:c.399+3049_399+3050delinsAG	NP_001357682.1:n.399+3049_399+3050delinsAG
NM_001281726.2:c.*2968_*2969delinsAG	NP_001268655.2:n.*2968_*2969delinsAG