Canonical Allele Identifier: CA532289403
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1430950734
gnomAD v2: 2-44114438-AAG-A
gnomAD v3: 2-43887299-AAG-A
gnomAD v4: 2-43887299-AAG-A
MyVariant Identifiers: chr2:g.44114439_44114440del (hg19) chr2:g.43887300_43887301del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887302_43887303del , CM000664.2:g.43887302_43887303del GRCh38
NC_000002.11:g.44114441_44114442del , CM000664.1:g.44114441_44114442del GRCh37
NC_000002.10:g.43967945_43967946del NCBI36
NG_008247.1:g.113705_113706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2251_2252del
ENST00000684454.1:n.9348_9349del
ENST00000260665.12:c.*1299_*1300del MANE Select ENSP00000260665.7:n.*1299_*1300del
ENST00000260665.11:c.*1299_*1300del ENSP00000260665.7:n.*1299_*1300del
NM_133259.3:c.*1299_*1300del NP_573566.2:n.*1299_*1300del
XR_002958896.1:n.5666_5667del
NM_133259.4:c.*1299_*1300del MANE Select NP_573566.2:n.*1299_*1300del
Search 100 bp 5'
Search 100 bp 3'