Canonical Allele Identifier: CA459617033
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1797748882
MyVariant Identifiers: chr8:g.10465718del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608210del , CM000670.2:g.10608210del GRCh38
NC_000008.10:g.10465720del , CM000670.1:g.10465720del GRCh37
NC_000008.9:g.10503130del NCBI36
NG_028035.1:g.51900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5890del MANE Select ENSP00000371923.3:p.Gln1964ArgfsTer14
ENST00000382483.3:c.5890del ENSP00000371923.3:p.Gln1964ArgfsTer14
NM_178857.5:c.5890del NP_849188.4:p.Gln1964ArgfsTer14
NM_178857.6:c.5890del MANE Select NP_849188.4:p.Gln1964ArgfsTer14
Search 100 bp 5'
Search 100 bp 3'