Canonical Allele Identifier: CA2591820485

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs1276175346
• gnomAD v3: 12-12164191-TG-T
• gnomAD v4: 12-12164191-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12164194del , CM000674.2:g.12164194del	GRCh38
NC_000012.11:g.12317128del , CM000674.1:g.12317128del	GRCh37
NC_000012.10:g.12208395del	NCBI36
NG_016168.1:g.107686del
NG_016168.2:g.107686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2052+81del (LRP6) MANE Select	ENSP00000261349.4:n.2052+81del
ENST00000261349.8:c.2052+81del (LRP6)	ENSP00000261349.4:n.2052+81del
ENST00000298566.2:c.*25-23111del (BCL2L14)	ENSP00000298566.1:n.*25-23111del
ENST00000538239.5:c.1646+81del (LRP6)
ENST00000543091.1:c.2052+81del (LRP6)	ENSP00000442472.1:n.2052+81del
NM_002336.2:c.2052+81del (LRP6)	NP_002327.2:n.2052+81del
XM_006719078.2:c.2052+81del (LRP6)	XP_006719141.1:n.2052+81del
XM_011520671.1:c.1599+81del (LRP6)	XP_011518973.1:n.1599+81del
XR_429034.1:n.2185+81del (LRP6)
XR_429035.1:n.2185+81del (LRP6)
XM_006719078.4:c.2052+81del (LRP6)	XP_006719141.1:n.2052+81del
XM_011520671.3:c.1599+81del (LRP6)	XP_011518973.1:n.1599+81del
XR_002957325.1:n.2185+81del (LRP6)
XR_429035.3:n.2185+81del (LRP6)
NM_002336.3:c.2052+81del (LRP6) MANE Select	NP_002327.2:n.2052+81del