Canonical Allele Identifier: CA2016782956
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Linked Data

dbSNP Id: rs1862811225

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12164142_12164143insC , CM000674.2:g.12164142_12164143insC GRCh38
NC_000012.11:g.12317076_12317077insC , CM000674.1:g.12317076_12317077insC GRCh37
NC_000012.10:g.12208343_12208344insC NCBI36
NG_016168.1:g.107735_107736insG
NG_016168.2:g.107735_107736insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261349.9:c.2052+130_2052+131insG (LRP6) MANE Select ENSP00000261349.4:n.2052+130_2052+131insG
ENST00000261349.8:c.2052+130_2052+131insG (LRP6) ENSP00000261349.4:n.2052+130_2052+131insG
ENST00000298566.2:c.*25-23163_*25-23162insC (BCL2L14) ENSP00000298566.1:n.*25-23163_*25-23162insC
ENST00000538239.5:c.1646+130_1646+131insG (LRP6)
ENST00000543091.1:c.2052+130_2052+131insG (LRP6) ENSP00000442472.1:n.2052+130_2052+131insG
NM_002336.2:c.2052+130_2052+131insG (LRP6) NP_002327.2:n.2052+130_2052+131insG
XM_006719078.2:c.2052+130_2052+131insG (LRP6) XP_006719141.1:n.2052+130_2052+131insG
XM_011520671.1:c.1599+130_1599+131insG (LRP6) XP_011518973.1:n.1599+130_1599+131insG
XR_429034.1:n.2185+130_2185+131insG (LRP6)
XR_429035.1:n.2185+130_2185+131insG (LRP6)
XM_006719078.4:c.2052+130_2052+131insG (LRP6) XP_006719141.1:n.2052+130_2052+131insG
XM_011520671.3:c.1599+130_1599+131insG (LRP6) XP_011518973.1:n.1599+130_1599+131insG
XR_002957325.1:n.2185+130_2185+131insG (LRP6)
XR_429035.3:n.2185+130_2185+131insG (LRP6)
NM_002336.3:c.2052+130_2052+131insG (LRP6) MANE Select NP_002327.2:n.2052+130_2052+131insG