Canonical Allele Identifier: CA1029995449

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670296659
• gnomAD v3: 2-43887143-C-CAAAAAAAAGAAAA
• gnomAD v4: 2-43887143-C-CAAAAAAAAGAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43887151_43887152insGAAAAAAAAAAAA , CM000664.2:g.43887151_43887152insGAAAAAAAAAAAA	GRCh38
NC_000002.11:g.44114290_44114291insGAAAAAAAAAAAA , CM000664.1:g.44114290_44114291insGAAAAAAAAAAAA	GRCh37
NC_000002.10:g.43967794_43967795insGAAAAAAAAAAAA	NCBI36
NG_008247.1:g.113862_113863insTTTTCTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2408_2409insTTTTCTTTTTTTT
ENST00000684454.1:n.9505_9506insTTTTCTTTTTTTT
ENST00000260665.12:c.*1456_*1457insTTTTCTTTTTTTT MANE Select	ENSP00000260665.7:n.*1456_*1457insTTTTCTTTTTTTT
ENST00000260665.11:c.*1456_*1457insTTTTCTTTTTTTT	ENSP00000260665.7:n.*1456_*1457insTTTTCTTTTTTTT
NM_133259.3:c.*1456_*1457insTTTTCTTTTTTTT	NP_573566.2:n.*1456_*1457insTTTTCTTTTTTTT
XR_002958896.1:n.5823_5824insTTTTCTTTTTTTT
NM_133259.4:c.*1456_*1457insTTTTCTTTTTTTT MANE Select	NP_573566.2:n.*1456_*1457insTTTTCTTTTTTTT