Canonical Allele Identifier: CA232999973
Community Standard Title: NM_002336.3(LRP6):c.845-269del
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12184380del , CM000674.2:g.12184380del GRCh38
NC_000012.11:g.12337314del , CM000674.1:g.12337314del GRCh37
NC_000012.10:g.12228581del NCBI36
NG_016168.1:g.87498del
NG_016168.2:g.87498del

Transcript Alleles

HGVS Amino-acid Change
NM_002336.3:c.845-269del (LRP6) MANE Select NP_002327.2:n.845-269del
ENST00000261349.9:c.845-269del (LRP6) MANE Select ENSP00000261349.4:n.845-269del
NM_002336.2:c.845-269del (LRP6) NP_002327.2:n.845-269del
ENST00000261349.8:c.845-269del (LRP6) ENSP00000261349.4:n.845-269del
ENST00000298566.2:c.*25-2925del (BCL2L14) ENSP00000298566.1:n.*25-2925del
ENST00000538239.5:c.439-269del (LRP6)
ENST00000543091.1:c.845-269del (LRP6) ENSP00000442472.1:n.845-269del
XM_006719078.2:c.845-269del (LRP6) XP_006719141.1:n.845-269del
XM_006719078.4:c.845-269del (LRP6) XP_006719141.1:n.845-269del
XM_011520671.1:c.392-269del (LRP6) XP_011518973.1:n.392-269del
XM_011520671.3:c.392-269del (LRP6) XP_011518973.1:n.392-269del
XR_002957325.1:n.978-269del (LRP6)
XR_429034.1:n.978-269del (LRP6)
XR_429035.1:n.978-269del (LRP6)
XR_429035.3:n.978-269del (LRP6)