Canonical Allele Identifier: CA2749706357
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886953_43886954del , CM000664.2:g.43886953_43886954del GRCh38
NC_000002.11:g.44114092_44114093del , CM000664.1:g.44114092_44114093del GRCh37
NC_000002.10:g.43967596_43967597del NCBI36
NG_008247.1:g.114052_114053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2598_2599del
ENST00000684454.1:n.9695_9696del
ENST00000260665.12:c.*1646_*1647del MANE Select ENSP00000260665.7:n.*1646_*1647del
ENST00000260665.11:c.*1646_*1647del ENSP00000260665.7:n.*1646_*1647del
NM_133259.3:c.*1646_*1647del NP_573566.2:n.*1646_*1647del
XR_002958896.1:n.6013_6014del
NM_133259.4:c.*1646_*1647del MANE Select NP_573566.2:n.*1646_*1647del