Canonical Allele Identifier: CA1110648153
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486144
ClinVar RCV Id: RCV002030584
dbSNP Id: rs778634096
gnomAD v3: 8-10622747-CG-C
gnomAD v4: 8-10622747-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622753del , CM000670.2:g.10622753del GRCh38
NC_000008.10:g.10480263del , CM000670.1:g.10480263del GRCh37
NC_000008.9:g.10517673del NCBI36
NG_028035.1:g.37360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.454del MANE Select ENSP00000371923.3:p.Arg152GlyfsTer5
ENST00000329335.3:n.704del
ENST00000382483.3:c.454del ENSP00000371923.3:p.Arg152GlyfsTer5
NM_178857.5:c.454del NP_849188.4:p.Arg152GlyfsTer5
NM_178857.6:c.454del MANE Select NP_849188.4:p.Arg152GlyfsTer5
Search 100 bp 5'
Search 100 bp 3'