Canonical Allele Identifier: CA684480663

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs1477219349
• gnomAD v3: 12-12163954-A-AC
• gnomAD v4: 12-12163954-A-AC
• MyVariant Identifiers: chr12:g.12163954_12163955insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12163958dup , CM000674.2:g.12163958dup	GRCh38
NC_000012.11:g.12316892dup , CM000674.1:g.12316892dup	GRCh37
NC_000012.10:g.12208159dup	NCBI36
NG_016168.1:g.107923dup
NG_016168.2:g.107923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2052+318dup (LRP6) MANE Select	ENSP00000261349.4:n.2052+318dup
ENST00000261349.8:c.2052+318dup (LRP6)	ENSP00000261349.4:n.2052+318dup
ENST00000298566.2:c.*25-23347dup (BCL2L14)	ENSP00000298566.1:n.*25-23347dup
ENST00000538239.5:c.1646+318dup (LRP6)
ENST00000543091.1:c.2052+318dup (LRP6)	ENSP00000442472.1:n.2052+318dup
NM_002336.2:c.2052+318dup (LRP6)	NP_002327.2:n.2052+318dup
XM_006719078.2:c.2052+318dup (LRP6)	XP_006719141.1:n.2052+318dup
XM_011520671.1:c.1599+318dup (LRP6)	XP_011518973.1:n.1599+318dup
XR_429034.1:n.2185+318dup (LRP6)
XR_429035.1:n.2185+318dup (LRP6)
XM_006719078.4:c.2052+318dup (LRP6)	XP_006719141.1:n.2052+318dup
XM_011520671.3:c.1599+318dup (LRP6)	XP_011518973.1:n.1599+318dup
XR_002957325.1:n.2185+318dup (LRP6)
XR_429035.3:n.2185+318dup (LRP6)
NM_002336.3:c.2052+318dup (LRP6) MANE Select	NP_002327.2:n.2052+318dup