Canonical Allele Identifier: CA1029995687

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670298826
• gnomAD v3: 2-43887164-A-AAAAAAAAAAAAAAAAAAAAT
• gnomAD v4: 2-43887164-A-AAAAAAAAAAAAAAAAAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43887164_43887165insAAAAAAAAAAAAAAAAAAAT , CM000664.2:g.43887164_43887165insAAAAAAAAAAAAAAAAAAAT	GRCh38
NC_000002.11:g.44114303_44114304insAAAAAAAAAAAAAAAAAAAT , CM000664.1:g.44114303_44114304insAAAAAAAAAAAAAAAAAAAT	GRCh37
NC_000002.10:g.43967807_43967808insAAAAAAAAAAAAAAAAAAAT	NCBI36
NG_008247.1:g.113841_113842insATTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2387_2388insATTTTTTTTTTTTTTTTTTT
ENST00000684454.1:n.9484_9485insATTTTTTTTTTTTTTTTTTT
ENST00000260665.12:c.*1435_*1436insATTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000260665.7:n.*1435_*1436insATTTTTTTTTTTTTTTTTTT
ENST00000260665.11:c.*1435_*1436insATTTTTTTTTTTTTTTTTTT	ENSP00000260665.7:n.*1435_*1436insATTTTTTTTTTTTTTTTTTT
NM_133259.3:c.*1435_*1436insATTTTTTTTTTTTTTTTTTT	NP_573566.2:n.*1435_*1436insATTTTTTTTTTTTTTTTTTT
XR_002958896.1:n.5802_5803insATTTTTTTTTTTTTTTTTTT
NM_133259.4:c.*1435_*1436insATTTTTTTTTTTTTTTTTTT MANE Select	NP_573566.2:n.*1435_*1436insATTTTTTTTTTTTTTTTTTT