Canonical Allele Identifier: CA224274485

Gene: LRP5

Linked Data

• dbSNP Id: rs1041476179
• gnomAD v3: 11-68413559-CCAAA-C
• gnomAD v4: 11-68413559-CCAAA-C
• MyVariant Identifiers: chr11:g.68181028_68181031del (hg19) ; chr11:g.68413560_68413563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413562_68413565del , CM000673.2:g.68413562_68413565del	GRCh38
NC_000011.9:g.68181030_68181033del , CM000673.1:g.68181030_68181033del	GRCh37
NC_000011.8:g.67937606_67937609del	NCBI36
NG_015835.1:g.105923_105926del
NG_015835.2:g.105923_105926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2504-127_2504-124del MANE Select	ENSP00000294304.6:n.2504-127_2504-124del
ENST00000294304.11:c.2504-127_2504-124del	ENSP00000294304.6:n.2504-127_2504-124del
ENST00000529993.5:c.*1110-127_*1110-124del	ENSP00000436652.1:n.*1110-127_*1110-124del
NM_001291902.1:c.761-127_761-124del	NP_001278831.1:n.761-127_761-124del
NM_002335.3:c.2504-127_2504-124del	NP_002326.2:n.2504-127_2504-124del
XM_005273994.2:c.2504-127_2504-124del	XP_005274051.1:n.2504-127_2504-124del
XM_011545029.1:c.2531-127_2531-124del	XP_011543331.1:n.2531-127_2531-124del
XM_011545030.1:c.2531-127_2531-124del	XP_011543332.1:n.2531-127_2531-124del
XM_011545031.1:c.2531-127_2531-124del	XP_011543333.1:n.2531-127_2531-124del
XR_949925.1:n.2546-127_2546-124del
XR_949926.1:n.2546-127_2546-124del
XM_017017735.1:c.761-127_761-124del	XP_016873224.1:n.761-127_761-124del
XM_017017736.1:c.44-127_44-124del	XP_016873225.1:n.44-127_44-124del
XR_001747874.1:n.2770-127_2770-124del
XR_949925.2:n.2546-127_2546-124del
XR_949926.2:n.2546-127_2546-124del
NM_002335.4:c.2504-127_2504-124del MANE Select	NP_002326.2:n.2504-127_2504-124del
NM_001291902.2:c.761-127_761-124del	NP_001278831.1:n.761-127_761-124del