Canonical Allele Identifier: CA2493970948
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887295_43887297delinsCAA , CM000664.2:g.43887295_43887297delinsCAA GRCh38
NC_000002.11:g.44114434_44114436delinsCAA , CM000664.1:g.44114434_44114436delinsCAA GRCh37
NC_000002.10:g.43967938_43967940delinsCAA NCBI36
NG_008247.1:g.113709_113711delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2255_2257delinsTTG
ENST00000684454.1:n.9352_9354delinsTTG
ENST00000260665.12:c.*1303_*1305delinsTTG MANE Select ENSP00000260665.7:n.*1303_*1305delinsTTG
ENST00000260665.11:c.*1303_*1305delinsTTG ENSP00000260665.7:n.*1303_*1305delinsTTG
NM_133259.3:c.*1303_*1305delinsTTG NP_573566.2:n.*1303_*1305delinsTTG
XR_002958896.1:n.5670_5672delinsTTG
NM_133259.4:c.*1303_*1305delinsTTG MANE Select NP_573566.2:n.*1303_*1305delinsTTG