Canonical Allele Identifier: CA532289395
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1670299366
gnomAD v2: 2-44114315-C-CAAAA
gnomAD v3: 2-43887176-C-CAAAA
gnomAD v4: 2-43887176-C-CAAAA
MyVariant Identifiers: chr2:g.44114315_44114316insAAAA (hg19) chr2:g.43887176_43887177insAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887179_43887180insAAAA , CM000664.2:g.43887179_43887180insAAAA GRCh38
NC_000002.11:g.44114318_44114319insAAAA , CM000664.1:g.44114318_44114319insAAAA GRCh37
NC_000002.10:g.43967822_43967823insAAAA NCBI36
NG_008247.1:g.113829_113830insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2375_2376insTTTT
ENST00000684454.1:n.9472_9473insTTTT
ENST00000260665.12:c.*1423_*1424insTTTT MANE Select ENSP00000260665.7:n.*1423_*1424insTTTT
ENST00000260665.11:c.*1423_*1424insTTTT ENSP00000260665.7:n.*1423_*1424insTTTT
NM_133259.3:c.*1423_*1424insTTTT NP_573566.2:n.*1423_*1424insTTTT
XR_002958896.1:n.5790_5791insTTTT
NM_133259.4:c.*1423_*1424insTTTT MANE Select NP_573566.2:n.*1423_*1424insTTTT
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