Canonical Allele Identifier: CA769090135
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1251832240
gnomAD v4: 2-43887267-G-GC
MyVariant Identifiers: chr2:g.44114406_44114407insC (hg19) chr2:g.43887267_43887268insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887272dup , CM000664.2:g.43887272dup GRCh38
NC_000002.11:g.44114411dup , CM000664.1:g.44114411dup GRCh37
NC_000002.10:g.43967915dup NCBI36
NG_008247.1:g.113738dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682612.1:c.2284dup
ENST00000684454.1:n.9381dup
ENST00000260665.12:c.*1332dup MANE Select ENSP00000260665.7:n.*1332dup
ENST00000260665.11:c.*1332dup ENSP00000260665.7:n.*1332dup
NM_133259.3:c.*1332dup NP_573566.2:n.*1332dup
XR_002958896.1:n.5699dup
NM_133259.4:c.*1332dup MANE Select NP_573566.2:n.*1332dup
Search 100 bp 5'
Search 100 bp 3'