Canonical Allele Identifier: CA2794576559
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12164162_12164165del , CM000674.2:g.12164162_12164165del GRCh38
NC_000012.11:g.12317096_12317099del , CM000674.1:g.12317096_12317099del GRCh37
NC_000012.10:g.12208363_12208366del NCBI36
NG_016168.1:g.107713_107716del
NG_016168.2:g.107713_107716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261349.9:c.2052+108_2052+111del (LRP6) MANE Select ENSP00000261349.4:n.2052+108_2052+111del
ENST00000261349.8:c.2052+108_2052+111del (LRP6) ENSP00000261349.4:n.2052+108_2052+111del
ENST00000298566.2:c.*25-23143_*25-23140del (BCL2L14) ENSP00000298566.1:n.*25-23143_*25-23140del
ENST00000538239.5:c.1646+108_1646+111del (LRP6)
ENST00000543091.1:c.2052+108_2052+111del (LRP6) ENSP00000442472.1:n.2052+108_2052+111del
NM_002336.2:c.2052+108_2052+111del (LRP6) NP_002327.2:n.2052+108_2052+111del
XM_006719078.2:c.2052+108_2052+111del (LRP6) XP_006719141.1:n.2052+108_2052+111del
XM_011520671.1:c.1599+108_1599+111del (LRP6) XP_011518973.1:n.1599+108_1599+111del
XR_429034.1:n.2185+108_2185+111del (LRP6)
XR_429035.1:n.2185+108_2185+111del (LRP6)
XM_006719078.4:c.2052+108_2052+111del (LRP6) XP_006719141.1:n.2052+108_2052+111del
XM_011520671.3:c.1599+108_1599+111del (LRP6) XP_011518973.1:n.1599+108_1599+111del
XR_002957325.1:n.2185+108_2185+111del (LRP6)
XR_429035.3:n.2185+108_2185+111del (LRP6)
NM_002336.3:c.2052+108_2052+111del (LRP6) MANE Select NP_002327.2:n.2052+108_2052+111del