Canonical Allele Identifier: CA2493970719
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886963_43886965delinsAAC , CM000664.2:g.43886963_43886965delinsAAC GRCh38
NC_000002.11:g.44114102_44114104delinsAAC , CM000664.1:g.44114102_44114104delinsAAC GRCh37
NC_000002.10:g.43967606_43967608delinsAAC NCBI36
NG_008247.1:g.114041_114043delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2587_2589delinsGTT
ENST00000684454.1:n.9684_9686delinsGTT
ENST00000260665.12:c.*1635_*1637delinsGTT MANE Select ENSP00000260665.7:n.*1635_*1637delinsGTT
ENST00000260665.11:c.*1635_*1637delinsGTT ENSP00000260665.7:n.*1635_*1637delinsGTT
NM_133259.3:c.*1635_*1637delinsGTT NP_573566.2:n.*1635_*1637delinsGTT
XR_002958896.1:n.6002_6004delinsGTT
NM_133259.4:c.*1635_*1637delinsGTT MANE Select NP_573566.2:n.*1635_*1637delinsGTT