Canonical Allele Identifier: CA2016782888
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12164042_12164047delinsATCGCT , CM000674.2:g.12164042_12164047delinsATCGCT GRCh38
NC_000012.11:g.12316976_12316981delinsATCGCT , CM000674.1:g.12316976_12316981delinsATCGCT GRCh37
NC_000012.10:g.12208243_12208248delinsATCGCT NCBI36
NG_016168.1:g.107831_107836delinsAGCGAT
NG_016168.2:g.107831_107836delinsAGCGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261349.9:c.2052+226_2052+231delinsAGCGAT (LRP6) MANE Select ENSP00000261349.4:n.2052+226_2052+231delinsAGCGAT
ENST00000261349.8:c.2052+226_2052+231delinsAGCGAT (LRP6) ENSP00000261349.4:n.2052+226_2052+231delinsAGCGAT
ENST00000298566.2:c.*25-23263_*25-23258delinsATCGCT (BCL2L14) ENSP00000298566.1:n.*25-23263_*25-23258delinsATCGCT
ENST00000538239.5:c.1646+226_1646+231delinsAGCGAT (LRP6)
ENST00000543091.1:c.2052+226_2052+231delinsAGCGAT (LRP6) ENSP00000442472.1:n.2052+226_2052+231delinsAGCGAT
NM_002336.2:c.2052+226_2052+231delinsAGCGAT (LRP6) NP_002327.2:n.2052+226_2052+231delinsAGCGAT
XM_006719078.2:c.2052+226_2052+231delinsAGCGAT (LRP6) XP_006719141.1:n.2052+226_2052+231delinsAGCGAT
XM_011520671.1:c.1599+226_1599+231delinsAGCGAT (LRP6) XP_011518973.1:n.1599+226_1599+231delinsAGCGAT
XR_429034.1:n.2185+226_2185+231delinsAGCGAT (LRP6)
XR_429035.1:n.2185+226_2185+231delinsAGCGAT (LRP6)
XM_006719078.4:c.2052+226_2052+231delinsAGCGAT (LRP6) XP_006719141.1:n.2052+226_2052+231delinsAGCGAT
XM_011520671.3:c.1599+226_1599+231delinsAGCGAT (LRP6) XP_011518973.1:n.1599+226_1599+231delinsAGCGAT
XR_002957325.1:n.2185+226_2185+231delinsAGCGAT (LRP6)
XR_429035.3:n.2185+226_2185+231delinsAGCGAT (LRP6)
NM_002336.3:c.2052+226_2052+231delinsAGCGAT (LRP6) MANE Select NP_002327.2:n.2052+226_2052+231delinsAGCGAT