Canonical Allele Identifier: CA2749706403
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887392_43887429del , CM000664.2:g.43887392_43887429del GRCh38
NC_000002.11:g.44114531_44114568del , CM000664.1:g.44114531_44114568del GRCh37
NC_000002.10:g.43968035_43968072del NCBI36
NG_008247.1:g.113581_113618del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2127_2164del
ENST00000684454.1:n.9224_9261del
ENST00000260665.12:c.*1175_*1212del MANE Select ENSP00000260665.7:n.*1175_*1212del
ENST00000260665.11:c.*1175_*1212del ENSP00000260665.7:n.*1175_*1212del
NM_133259.3:c.*1175_*1212del NP_573566.2:n.*1175_*1212del
XR_002958896.1:n.5542_5579del
NM_133259.4:c.*1175_*1212del MANE Select NP_573566.2:n.*1175_*1212del