Canonical Allele Identifier: CA1029995375

Gene: LRPPRC

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43887160_43887161insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.43887160_43887161insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000002.11:g.44114299_44114300insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.44114299_44114300insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000002.10:g.43967803_43967804insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008247.1:g.113862_113863insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2408_2409insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT
ENST00000684454.1:n.9505_9506insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT
ENST00000260665.12:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT MANE Select	ENSP00000260665.7:n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTGTTTTTT...
ENST00000260665.11:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT	ENSP00000260665.7:n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTGTTTTTT...
NM_133259.3:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT	NP_573566.2:n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTT...
XR_002958896.1:n.5823_5824insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT
NM_133259.4:c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT MANE Select	NP_573566.2:n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTT...