Canonical Allele Identifier: CA532289375
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1475307905
gnomAD v2: 2-44114102-AAC-A
gnomAD v3: 2-43886963-AAC-A
gnomAD v4: 2-43886963-AAC-A
MyVariant Identifiers: chr2:g.44114103_44114104del (hg19) chr2:g.43886964_43886965del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886965_43886966del , CM000664.2:g.43886965_43886966del GRCh38
NC_000002.11:g.44114104_44114105del , CM000664.1:g.44114104_44114105del GRCh37
NC_000002.10:g.43967608_43967609del NCBI36
NG_008247.1:g.114041_114042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2587_2588del
ENST00000684454.1:n.9684_9685del
ENST00000260665.12:c.*1635_*1636del MANE Select ENSP00000260665.7:n.*1635_*1636del
ENST00000260665.11:c.*1635_*1636del ENSP00000260665.7:n.*1635_*1636del
NM_133259.3:c.*1635_*1636del NP_573566.2:n.*1635_*1636del
XR_002958896.1:n.6002_6003del
NM_133259.4:c.*1635_*1636del MANE Select NP_573566.2:n.*1635_*1636del
Search 100 bp 5'
Search 100 bp 3'