Canonical Allele Identifier: CA1029995384

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670296752
• gnomAD v3: 2-43887143-C-CAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA
• gnomAD v4: 2-43887143-C-CAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43887162_43887163insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.43887162_43887163insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000002.11:g.44114301_44114302insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.44114301_44114302insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000002.10:g.43967805_43967806insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008247.1:g.113862_113863insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2408_2409insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT
ENST00000684454.1:n.9505_9506insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT
ENST00000260665.12:c.*1456_*1457insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000260665.7:n.*1456_*1457insTTTTTTTTTTTTTTCTTTTTTTTTTTT...
ENST00000260665.11:c.*1456_*1457insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT	ENSP00000260665.7:n.*1456_*1457insTTTTTTTTTTTTTTCTTTTTTTTTTTT...
NM_133259.3:c.*1456_*1457insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT	NP_573566.2:n.*1456_*1457insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT...
XR_002958896.1:n.5823_5824insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT
NM_133259.4:c.*1456_*1457insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT MANE Select	NP_573566.2:n.*1456_*1457insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT...