Canonical Allele Identifier: CA2617689539

Gene: LRP6 BCL2L14

Linked Data

• gnomAD v4: 12-12164127-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12164128_12164129del , CM000674.2:g.12164128_12164129del	GRCh38
NC_000012.11:g.12317062_12317063del , CM000674.1:g.12317062_12317063del	GRCh37
NC_000012.10:g.12208329_12208330del	NCBI36
NG_016168.1:g.107749_107750del
NG_016168.2:g.107749_107750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2052+144_2052+145del (LRP6) MANE Select	ENSP00000261349.4:n.2052+144_2052+145del
ENST00000261349.8:c.2052+144_2052+145del (LRP6)	ENSP00000261349.4:n.2052+144_2052+145del
ENST00000298566.2:c.*25-23177_*25-23176del (BCL2L14)	ENSP00000298566.1:n.*25-23177_*25-23176del
ENST00000538239.5:c.1646+144_1646+145del (LRP6)
ENST00000543091.1:c.2052+144_2052+145del (LRP6)	ENSP00000442472.1:n.2052+144_2052+145del
NM_002336.2:c.2052+144_2052+145del (LRP6)	NP_002327.2:n.2052+144_2052+145del
XM_006719078.2:c.2052+144_2052+145del (LRP6)	XP_006719141.1:n.2052+144_2052+145del
XM_011520671.1:c.1599+144_1599+145del (LRP6)	XP_011518973.1:n.1599+144_1599+145del
XR_429034.1:n.2185+144_2185+145del (LRP6)
XR_429035.1:n.2185+144_2185+145del (LRP6)
XM_006719078.4:c.2052+144_2052+145del (LRP6)	XP_006719141.1:n.2052+144_2052+145del
XM_011520671.3:c.1599+144_1599+145del (LRP6)	XP_011518973.1:n.1599+144_1599+145del
XR_002957325.1:n.2185+144_2185+145del (LRP6)
XR_429035.3:n.2185+144_2185+145del (LRP6)
NM_002336.3:c.2052+144_2052+145del (LRP6) MANE Select	NP_002327.2:n.2052+144_2052+145del