Canonical Allele Identifier: CA891862939

Gene: LRP6 BCL2L14

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12198797_12200966del , CM000674.2:g.12198797_12200966del	GRCh38
NC_000012.11:g.12351731_12353900del , CM000674.1:g.12351731_12353900del	GRCh37
NC_000012.10:g.12242998_12245167del	NCBI36
NG_016168.1:g.70912_73081del
NG_016168.2:g.70912_73081del

Transcript Alleles

HGVS	Amino-acid Change
NM_002336.3:c.647+2237_647+4406del (LRP6) MANE Select	NP_002327.2:n.647+2237_647+4406del
ENST00000261349.9:c.647+2237_647+4406del (LRP6) MANE Select	ENSP00000261349.4:n.647+2237_647+4406del
NM_002336.2:c.647+2237_647+4406del (LRP6)	NP_002327.2:n.647+2237_647+4406del
ENST00000261349.8:c.647+2237_647+4406del (LRP6)	ENSP00000261349.4:n.647+2237_647+4406del
ENST00000298566.2:c.*223+11294_*224-9933del (BCL2L14)	ENSP00000298566.1:n.*223+11294_*224-9933del
ENST00000535731.1:c.194+2237_194+4406del (LRP6)	ENSP00000439765.1:n.194+2237_194+4406del
ENST00000538239.5:c.241+2237_241+4406del (LRP6)
ENST00000543091.1:c.647+2237_647+4406del (LRP6)	ENSP00000442472.1:n.647+2237_647+4406del
ENST00000545658.1:n.121+2237_121+4406del (LRP6)
XM_006719078.2:c.647+2237_647+4406del (LRP6)	XP_006719141.1:n.647+2237_647+4406del
XM_006719078.4:c.647+2237_647+4406del (LRP6)	XP_006719141.1:n.647+2237_647+4406del
XM_011520671.1:c.194+2237_194+4406del (LRP6)	XP_011518973.1:n.194+2237_194+4406del
XM_011520671.3:c.194+2237_194+4406del (LRP6)	XP_011518973.1:n.194+2237_194+4406del
XR_002957325.1:n.780+2237_780+4406del (LRP6)
XR_429034.1:n.780+2237_780+4406del (LRP6)
XR_429035.1:n.780+2237_780+4406del (LRP6)
XR_429035.3:n.780+2237_780+4406del (LRP6)