Canonical Allele Identifier: CA2839975202
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612692dup , CM000670.2:g.10612692dup GRCh38
NC_000008.10:g.10470202dup , CM000670.1:g.10470202dup GRCh37
NC_000008.9:g.10507612dup NCBI36
NG_028035.1:g.47417dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1407dup MANE Select ENSP00000371923.3:p.Ser470LeufsTer23
ENST00000382483.3:c.1407dup ENSP00000371923.3:p.Ser470LeufsTer23
NM_178857.5:c.1407dup NP_849188.4:p.Ser470LeufsTer23
NM_178857.6:c.1407dup MANE Select NP_849188.4:p.Ser470LeufsTer23
Search 100 bp 5'
Search 100 bp 3'