Canonical Allele Identifier: CA2596915460
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v3: 2-43887166-A-AAAAAAAAAAATT
gnomAD v4: 2-43887166-A-AAAAAAAAAAATT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887166_43887167insAAAAAAAAAATT , CM000664.2:g.43887166_43887167insAAAAAAAAAATT GRCh38
NC_000002.11:g.44114305_44114306insAAAAAAAAAATT , CM000664.1:g.44114305_44114306insAAAAAAAAAATT GRCh37
NC_000002.10:g.43967809_43967810insAAAAAAAAAATT NCBI36
NG_008247.1:g.113839_113840insAATTTTTTTTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000682612.1:c.2385_2386insAATTTTTTTTTT
ENST00000684454.1:n.9482_9483insAATTTTTTTTTT
ENST00000260665.12:c.*1433_*1434insAATTTTTTTTTT MANE Select ENSP00000260665.7:n.*1433_*1434insAATTTTTTTTTT
ENST00000260665.11:c.*1433_*1434insAATTTTTTTTTT ENSP00000260665.7:n.*1433_*1434insAATTTTTTTTTT
NM_133259.3:c.*1433_*1434insAATTTTTTTTTT NP_573566.2:n.*1433_*1434insAATTTTTTTTTT
XR_002958896.1:n.5800_5801insAATTTTTTTTTT
NM_133259.4:c.*1433_*1434insAATTTTTTTTTT MANE Select NP_573566.2:n.*1433_*1434insAATTTTTTTTTT
Search 100 bp 5'
Search 100 bp 3'