Canonical Allele Identifier: CA913102320

Gene: BTD

Linked Data

• MyVariant Identifiers: chr3:g.15686816_15686836del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15645309_15645329del , CM000665.2:g.15645309_15645329del	GRCh38
NC_000003.11:g.15686816_15686836del , CM000665.1:g.15686816_15686836del	GRCh37
NC_000003.10:g.15661820_15661840del	NCBI36
NG_008019.1:g.48562_48582del
NG_008019.2:g.48958_48978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.1393_1413del	ENSP00000394277.2:p.His465_Ser471del
ENST00000671928.2:c.399+3252_399+3272del	ENSP00000500069.2:n.399+3252_399+3272del
ENST00000672892.2:c.1015+378_1015+398del	ENSP00000499944.2:n.1015+378_1015+398del
ENST00000303498.10:c.1393_1413del	ENSP00000306477.6:p.His465_Ser471del
ENST00000427382.2:c.1393_1413del	ENSP00000397113.2:p.His465_Ser471del
ENST00000437172.6:c.1393_1413del	ENSP00000400995.2:p.His465_Ser471del
ENST00000449107.7:c.1393_1413del	ENSP00000388212.2:p.His465_Ser471del
ENST00000643237.3:c.1393_1413del MANE Select	ENSP00000495254.2:p.His465_Ser471del
ENST00000646371.1:c.1393_1413del	ENSP00000495866.1:p.His465_Ser471del
ENST00000671928.1:c.165+3252_165+3272del	ENSP00000500069.1:n.165+3252_165+3272del
ENST00000672065.1:c.1453_1473del	ENSP00000500403.1:p.His485_Ser491del
ENST00000672112.1:c.1459_1479del	ENSP00000500193.1:p.His487_Ser493del
ENST00000672141.1:c.399+3252_399+3272del	ENSP00000500210.1:n.399+3252_399+3272del
ENST00000672427.1:c.1015+378_1015+398del	ENSP00000500131.1:n.1015+378_1015+398del
ENST00000672760.1:c.399+3252_399+3272del	ENSP00000500530.1:n.399+3252_399+3272del
ENST00000672892.1:c.793+378_793+398del	ENSP00000499944.1:n.793+378_793+398del
ENST00000673467.1:c.399+3252_399+3272del	ENSP00000500288.1:n.399+3252_399+3272del
ENST00000673620.1:c.399+3252_399+3272del	ENSP00000500325.1:n.399+3252_399+3272del
ENST00000303498.9:c.1453_1473del	ENSP00000306477.5:p.His485_Ser491del
ENST00000383778.5:c.1393_1413del	ENSP00000373288.4:p.His465_Ser471del
ENST00000437172.5:c.1459_1479del	ENSP00000400995.1:p.His487_Ser493del
ENST00000449107.5:c.1459_1479del	ENSP00000388212.1:p.His487_Ser493del
NM_000060.3:c.1453_1473del	NP_000051.1:p.His485_Ser491del
NM_001281723.1:c.1459_1479del	NP_001268652.1:p.His487_Ser493del
NM_001281724.1:c.1459_1479del	NP_001268653.1:p.His487_Ser493del
NM_001281725.1:c.1393_1413del	NP_001268654.1:p.His465_Ser471del
XM_006713314.2:c.1393_1413del	XP_006713377.1:p.His465_Ser471del
XM_011534041.1:c.1393_1413del	XP_011532343.1:p.His465_Ser471del
NM_000060.4:c.1453_1473del	NP_000051.1:p.His485_Ser491del
NM_001281723.2:c.1459_1479del	NP_001268652.1:p.His487_Ser493del
NM_001281724.2:c.1459_1479del	NP_001268653.1:p.His487_Ser493del
NM_001281725.2:c.1393_1413del	NP_001268654.1:p.His465_Ser471del
NM_001323582.1:c.1393_1413del	NP_001310511.1:p.His465_Ser471del
XM_011534041.2:c.1393_1413del	XP_011532343.1:p.His465_Ser471del
XM_017007088.1:c.1393_1413del	XP_016862577.1:p.His465_Ser471del
XM_024453724.1:c.1393_1413del	XP_024309492.1:p.His465_Ser471del
NM_001281723.3:c.1393_1413del	NP_001268652.2:p.His465_Ser471del
NM_001281724.3:c.1393_1413del	NP_001268653.2:p.His465_Ser471del
NM_001370658.1:c.1393_1413del MANE Select	NP_001357587.1:p.His465_Ser471del
NM_001370752.1:c.1015+378_1015+398del	NP_001357681.1:n.1015+378_1015+398del
NM_001370753.1:c.399+3252_399+3272del	NP_001357682.1:n.399+3252_399+3272del
NM_001281726.2:c.*3171_*3191del	NP_001268655.2:n.*3171_*3191del