Canonical Allele Identifier: CA2839078767
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612549del , CM000670.2:g.10612549del GRCh38
NC_000008.10:g.10470059del , CM000670.1:g.10470059del GRCh37
NC_000008.9:g.10507469del NCBI36
NG_028035.1:g.47559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1549del MANE Select ENSP00000371923.3:p.Gln517LysfsTer5
ENST00000382483.3:c.1549del ENSP00000371923.3:p.Gln517LysfsTer5
NM_178857.5:c.1549del NP_849188.4:p.Gln517LysfsTer5
NM_178857.6:c.1549del MANE Select NP_849188.4:p.Gln517LysfsTer5
Search 100 bp 5'
Search 100 bp 3'