Canonical Allele Identifier: CA944801732

Gene: LRP6 BCL2L14

Linked Data

• gnomAD v3: 12-12164122-ACCGTTT-A
• gnomAD v4: 12-12164122-ACCGTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12164123_12164128del , CM000674.2:g.12164123_12164128del	GRCh38
NC_000012.11:g.12317057_12317062del , CM000674.1:g.12317057_12317062del	GRCh37
NC_000012.10:g.12208324_12208329del	NCBI36
NG_016168.1:g.107750_107755del
NG_016168.2:g.107750_107755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2052+145_2052+150del (LRP6) MANE Select	ENSP00000261349.4:n.2052+145_2052+150del
ENST00000261349.8:c.2052+145_2052+150del (LRP6)	ENSP00000261349.4:n.2052+145_2052+150del
ENST00000298566.2:c.*25-23182_*25-23177del (BCL2L14)	ENSP00000298566.1:n.*25-23182_*25-23177del
ENST00000538239.5:c.1646+145_1646+150del (LRP6)
ENST00000543091.1:c.2052+145_2052+150del (LRP6)	ENSP00000442472.1:n.2052+145_2052+150del
NM_002336.2:c.2052+145_2052+150del (LRP6)	NP_002327.2:n.2052+145_2052+150del
XM_006719078.2:c.2052+145_2052+150del (LRP6)	XP_006719141.1:n.2052+145_2052+150del
XM_011520671.1:c.1599+145_1599+150del (LRP6)	XP_011518973.1:n.1599+145_1599+150del
XR_429034.1:n.2185+145_2185+150del (LRP6)
XR_429035.1:n.2185+145_2185+150del (LRP6)
XM_006719078.4:c.2052+145_2052+150del (LRP6)	XP_006719141.1:n.2052+145_2052+150del
XM_011520671.3:c.1599+145_1599+150del (LRP6)	XP_011518973.1:n.1599+145_1599+150del
XR_002957325.1:n.2185+145_2185+150del (LRP6)
XR_429035.3:n.2185+145_2185+150del (LRP6)
NM_002336.3:c.2052+145_2052+150del (LRP6) MANE Select	NP_002327.2:n.2052+145_2052+150del