Canonical Allele Identifier: CA2614714590

Gene: LRP5

Linked Data

• gnomAD v4: 11-68413719-TCCCGCACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413720_68413728del , CM000673.2:g.68413720_68413728del	GRCh38
NC_000011.9:g.68181188_68181196del , CM000673.1:g.68181188_68181196del	GRCh37
NC_000011.8:g.67937764_67937772del	NCBI36
NG_015835.1:g.106081_106089del
NG_015835.2:g.106081_106089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2535_2543del MANE Select	ENSP00000294304.6:p.Pro846_Pro848del
ENST00000294304.11:c.2535_2543del	ENSP00000294304.6:p.Pro846_Pro848del
ENST00000529993.5:c.*1141_*1149del	ENSP00000436652.1:n.*1141_*1149del
NM_001291902.1:c.792_800del	NP_001278831.1:p.Pro265_Pro267del
NM_002335.3:c.2535_2543del	NP_002326.2:p.Pro846_Pro848del
XM_005273994.2:c.2535_2543del	XP_005274051.1:p.Pro846_Pro848del
XM_011545029.1:c.2562_2570del	XP_011543331.1:p.Pro855_Pro857del
XM_011545030.1:c.2562_2570del	XP_011543332.1:p.Pro855_Pro857del
XM_011545031.1:c.2562_2570del	XP_011543333.1:p.Pro855_Pro857del
XR_949925.1:n.2577_2585del
XR_949926.1:n.2577_2585del
XM_017017735.1:c.792_800del	XP_016873224.1:p.Pro265_Pro267del
XM_017017736.1:c.75_83del	XP_016873225.1:p.Pro26_Pro28del
XR_001747874.1:n.2801_2809del
XR_949925.2:n.2577_2585del
XR_949926.2:n.2577_2585del
NM_002335.4:c.2535_2543del MANE Select	NP_002326.2:p.Pro846_Pro848del
NM_001291902.2:c.792_800del	NP_001278831.1:p.Pro265_Pro267del