Canonical Allele Identifier: CA532289393
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v2: 2-44114305-A-AAAAAAAAAAAT
gnomAD v3: 2-43887166-A-AAAAAAAAAAAT
gnomAD v4: 2-43887166-A-AAAAAAAAAAAT
MyVariant Identifiers: chr2:g.44114306_44114315delinsAAAAAAAAAATTGCTTTTGGC (hg19) chr2:g.43887167_43887176delinsAAAAAAAAAATTGCTTTTGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887166_43887167insAAAAAAAAAAT , CM000664.2:g.43887166_43887167insAAAAAAAAAAT GRCh38
NC_000002.11:g.44114305_44114306insAAAAAAAAAAT , CM000664.1:g.44114305_44114306insAAAAAAAAAAT GRCh37
NC_000002.10:g.43967809_43967810insAAAAAAAAAAT NCBI36
NG_008247.1:g.113839_113840insATTTTTTTTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000682612.1:c.2385_2386insATTTTTTTTTT
ENST00000684454.1:n.9482_9483insATTTTTTTTTT
ENST00000260665.12:c.*1433_*1434insATTTTTTTTTT MANE Select ENSP00000260665.7:n.*1433_*1434insATTTTTTTTTT
ENST00000260665.11:c.*1433_*1434insATTTTTTTTTT ENSP00000260665.7:n.*1433_*1434insATTTTTTTTTT
NM_133259.3:c.*1433_*1434insATTTTTTTTTT NP_573566.2:n.*1433_*1434insATTTTTTTTTT
XR_002958896.1:n.5800_5801insATTTTTTTTTT
NM_133259.4:c.*1433_*1434insATTTTTTTTTT MANE Select NP_573566.2:n.*1433_*1434insATTTTTTTTTT
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