Canonical Allele Identifier: CA1029995379

Gene: LRPPRC

Linked Data

• gnomAD v3: 2-43887143-C-CAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 2-43887143-C-CAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43887161_43887162insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.43887161_43887162insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000002.11:g.44114300_44114301insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.44114300_44114301insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000002.10:g.43967804_43967805insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008247.1:g.113862_113863insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2408_2409insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000684454.1:n.9505_9506insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000260665.12:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000260665.7:n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTGTTTT...
ENST00000260665.11:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	ENSP00000260665.7:n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTGTTTT...
NM_133259.3:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	NP_573566.2:n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTT...
XR_002958896.1:n.5823_5824insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
NM_133259.4:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT MANE Select	NP_573566.2:n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTT...