Canonical Allele Identifier: CA2277228

Gene: BTD

Linked Data

• dbSNP Id: rs757676698
• ExAC: 3:15676923 CATTCCAG / C
• MyVariant Identifiers: chr3:g.15676924_15676930del (hg19) ; chr3:g.15635417_15635423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15635420_15635426del , CM000665.2:g.15635420_15635426del	GRCh38
NC_000003.11:g.15676927_15676933del , CM000665.1:g.15676927_15676933del	GRCh37
NC_000003.10:g.15651931_15651937del	NCBI36
NG_008019.1:g.38673_38679del
NG_008019.2:g.39069_39075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.-16-4_-14del
ENST00000671928.2:c.-16-4_-14del
ENST00000672892.2:c.-16-4_-14del
ENST00000303498.10:c.-16-4_-14del
ENST00000417015.3:c.-16-4_-14del
ENST00000427382.2:c.-16-4_-14del
ENST00000437172.6:c.-16-4_-14del
ENST00000449107.7:c.-16-4_-14del
ENST00000467027.6:n.824-4_826del
ENST00000482824.2:c.-16-4_-14del
ENST00000643237.3:c.-16-4_-14del
ENST00000646371.1:c.-16-4_-14del
ENST00000672065.1:c.45-4_47del
ENST00000672112.1:c.51-4_53del
ENST00000672141.1:c.-16-4_-14del
ENST00000672336.1:c.-16-4_-14del
ENST00000672427.1:c.-16-4_-14del
ENST00000672760.1:c.-16-4_-14del
ENST00000673467.1:c.-16-4_-14del
ENST00000673620.1:c.-16-4_-14del
ENST00000303498.9:c.45-4_47del
ENST00000383778.5:c.-16-4_-14del
ENST00000417015.1:c.*296-4_*298del
ENST00000427382.1:c.-16-4_-14del
ENST00000436193.5:c.-16-4_-14del
ENST00000437172.5:c.51-4_53del
ENST00000449107.5:c.51-4_53del
ENST00000467027.5:n.371-4_373del
ENST00000471964.5:n.575-4_577del
ENST00000482824.1:n.120-4_122del
ENST00000494021.1:n.402-4_404del
NM_000060.3:c.45-4_47del
NM_001281723.1:c.51-4_53del
NM_001281724.1:c.51-4_53del
NM_001281725.1:c.-16-4_-14del
NM_001281726.1:c.45-4_47del
XM_006713314.2:c.-16-4_-14del
XM_011534041.1:c.-16-4_-14del
NM_000060.4:c.45-4_47del
NM_001281723.2:c.51-4_53del
NM_001281724.2:c.51-4_53del
NM_001281725.2:c.-16-4_-14del
NM_001323582.1:c.-16-4_-14del
XM_011534041.2:c.-16-4_-14del
XM_017007088.1:c.-16-4_-14del
XM_024453724.1:c.-16-4_-14del
NM_001281723.3:c.-16-4_-14del
NM_001281724.3:c.-16-4_-14del
NM_001370658.1:c.-16-4_-14del
NM_001370752.1:c.-16-4_-14del
NM_001370753.1:c.-16-4_-14del
NM_001281726.2:c.-16-4_-14del