Canonical Allele Identifier: CA769090050
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1238917979
gnomAD v3: 2-43887187-CAT-C
gnomAD v4: 2-43887187-CAT-C
MyVariant Identifiers: chr2:g.44114327_44114328del (hg19) chr2:g.43887188_43887189del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887188_43887189del , CM000664.2:g.43887188_43887189del GRCh38
NC_000002.11:g.44114327_44114328del , CM000664.1:g.44114327_44114328del GRCh37
NC_000002.10:g.43967831_43967832del NCBI36
NG_008247.1:g.113817_113818del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2363_2364del
ENST00000684454.1:n.9460_9461del
ENST00000260665.12:c.*1411_*1412del MANE Select ENSP00000260665.7:n.*1411_*1412del
ENST00000260665.11:c.*1411_*1412del ENSP00000260665.7:n.*1411_*1412del
NM_133259.3:c.*1411_*1412del NP_573566.2:n.*1411_*1412del
XR_002958896.1:n.5778_5779del
NM_133259.4:c.*1411_*1412del MANE Select NP_573566.2:n.*1411_*1412del
Search 100 bp 5'
Search 100 bp 3'