Canonical Allele Identifier: CA645559067
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs764382843
gnomAD v3: 8-10612839-ACT-A
gnomAD v4: 8-10612839-ACT-A
COSMIC: COSM3270066
MyVariant Identifiers: chr8:g.10470350_10470351del (hg19) chr8:g.10612840_10612841del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612847_10612848del , CM000670.2:g.10612847_10612848del GRCh38
NC_000008.10:g.10470357_10470358del , CM000670.1:g.10470357_10470358del GRCh37
NC_000008.9:g.10507767_10507768del NCBI36
NG_028035.1:g.47267_47268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1257_1258del MANE Select ENSP00000371923.3:p.Arg419SerfsTer?
ENST00000382483.3:c.1257_1258del ENSP00000371923.3:p.Arg419SerfsTer?
NM_178857.5:c.1257_1258del NP_849188.4:p.Arg419SerfsTer?
NM_178857.6:c.1257_1258del MANE Select NP_849188.4:p.Arg419SerfsTer?
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Search 100 bp 3'