Canonical Allele Identifier: CA2779033572
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622767_10622768del , CM000670.2:g.10622767_10622768del GRCh38
NC_000008.10:g.10480277_10480278del , CM000670.1:g.10480277_10480278del GRCh37
NC_000008.9:g.10517687_10517688del NCBI36
NG_028035.1:g.37340_37341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.434_435del MANE Select ENSP00000371923.3:p.Arg145GlnfsTer4
ENST00000329335.3:n.684_685del
ENST00000382483.3:c.434_435del ENSP00000371923.3:p.Arg145GlnfsTer4
NM_178857.5:c.434_435del NP_849188.4:p.Arg145GlnfsTer4
NM_178857.6:c.434_435del MANE Select NP_849188.4:p.Arg145GlnfsTer4
Search 100 bp 5'
Search 100 bp 3'