Canonical Allele Identifier: CA769089703
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1327171614
gnomAD v3: 2-43886946-TC-T
gnomAD v4: 2-43886946-TC-T
MyVariant Identifiers: chr2:g.44114086del (hg19) chr2:g.43886947del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886947del , CM000664.2:g.43886947del GRCh38
NC_000002.11:g.44114086del , CM000664.1:g.44114086del GRCh37
NC_000002.10:g.43967590del NCBI36
NG_008247.1:g.114059del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2605del
ENST00000684454.1:n.9702del
ENST00000260665.12:c.*1653del MANE Select ENSP00000260665.7:n.*1653del
ENST00000260665.11:c.*1653del ENSP00000260665.7:n.*1653del
NM_133259.3:c.*1653del NP_573566.2:n.*1653del
XR_002958896.1:n.6020del
NM_133259.4:c.*1653del MANE Select NP_573566.2:n.*1653del
Search 100 bp 5'
Search 100 bp 3'