Canonical Allele Identifier: CA1110639005
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v3: 8-10608204-TC-T
gnomAD v4: 8-10608204-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608206del , CM000670.2:g.10608206del GRCh38
NC_000008.10:g.10465716del , CM000670.1:g.10465716del GRCh37
NC_000008.9:g.10503126del NCBI36
NG_028035.1:g.51903del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5893del MANE Select ENSP00000371923.3:p.Glu1965ArgfsTer13
ENST00000382483.3:c.5893del ENSP00000371923.3:p.Glu1965ArgfsTer13
NM_178857.5:c.5893del NP_849188.4:p.Glu1965ArgfsTer13
NM_178857.6:c.5893del MANE Select NP_849188.4:p.Glu1965ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'