Canonical Allele Identifier: CA2695208892
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608203_10608239del , CM000670.2:g.10608203_10608239del GRCh38
NC_000008.10:g.10465713_10465749del , CM000670.1:g.10465713_10465749del GRCh37
NC_000008.9:g.10503123_10503159del NCBI36
NG_028035.1:g.51870_51906del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5860_5896del MANE Select ENSP00000371923.3:p.Thr1954GlnfsTer12
ENST00000382483.3:c.5860_5896del ENSP00000371923.3:p.Thr1954GlnfsTer12
NM_178857.5:c.5860_5896del NP_849188.4:p.Thr1954GlnfsTer12
NM_178857.6:c.5860_5896del MANE Select NP_849188.4:p.Thr1954GlnfsTer12
Search 100 bp 5'
Search 100 bp 3'