Canonical Allele Identifier: CA769089912

Gene: LRPPRC

Linked Data

• dbSNP Id: rs755308534
• gnomAD v3: 2-43887143-C-CAAAAAGAAAAAA
• gnomAD v4: 2-43887143-C-CAAAAAGAAAAAA
• MyVariant Identifiers: chr2:g.44114282_44114283insAAAAAGAAAAAA (hg19) ; chr2:g.43887143_43887144insAAAAAGAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43887148_43887149insGAAAAAAAAAAA , CM000664.2:g.43887148_43887149insGAAAAAAAAAAA	GRCh38
NC_000002.11:g.44114287_44114288insGAAAAAAAAAAA , CM000664.1:g.44114287_44114288insGAAAAAAAAAAA	GRCh37
NC_000002.10:g.43967791_43967792insGAAAAAAAAAAA	NCBI36
NG_008247.1:g.113862_113863insTTTTTTCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2408_2409insTTTTTTCTTTTT
ENST00000684454.1:n.9505_9506insTTTTTTCTTTTT
ENST00000260665.12:c.*1456_*1457insTTTTTTCTTTTT MANE Select	ENSP00000260665.7:n.*1456_*1457insTTTTTTCTTTTT
ENST00000260665.11:c.*1456_*1457insTTTTTTCTTTTT	ENSP00000260665.7:n.*1456_*1457insTTTTTTCTTTTT
NM_133259.3:c.*1456_*1457insTTTTTTCTTTTT	NP_573566.2:n.*1456_*1457insTTTTTTCTTTTT
XR_002958896.1:n.5823_5824insTTTTTTCTTTTT
NM_133259.4:c.*1456_*1457insTTTTTTCTTTTT MANE Select	NP_573566.2:n.*1456_*1457insTTTTTTCTTTTT