Canonical Allele Identifier: CA4625689
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2069484
ClinVar RCV Id: RCV002962208
dbSNP Id: rs778634096
ExAC: 8:10480257 C / CG
gnomAD v2: 8-10480257-C-CG
gnomAD v3: 8-10622747-C-CG
gnomAD v4: 8-10622747-C-CG
MyVariant Identifiers: chr8:g.10480257_10480258insG (hg19) chr8:g.10622747_10622748insG (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.454dup MANE Select ENSP00000371923.3:p.Arg152ProfsTer7
ENST00000329335.3:n.704dup
ENST00000382483.3:c.454dup ENSP00000371923.3:p.Arg152ProfsTer7
NM_178857.5:c.454dup NP_849188.4:p.Arg152ProfsTer7
NM_178857.6:c.454dup MANE Select NP_849188.4:p.Arg152ProfsTer7
Search 100 bp 5'
Search 100 bp 3'