Canonical Allele Identifier: CA4625753
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1333246
ClinVar RCV Id: RCV001807934 RCV001869574 RCV003888323
dbSNP Id: rs770312128
ExAC: 8:10480381 T / TG
gnomAD v2: 8-10480381-T-TG
gnomAD v3: 8-10622871-T-TG
gnomAD v4: 8-10622871-T-TG
MyVariant Identifiers: chr8:g.10480382_10480383insG (hg19) chr8:g.10480381_10480382insG (hg19) chr8:g.10622872_10622873insG (hg38) chr8:g.10622871_10622872insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622877dup , CM000670.2:g.10622877dup GRCh38
NC_000008.10:g.10480387dup , CM000670.1:g.10480387dup GRCh37
NC_000008.9:g.10517797dup NCBI36
NG_028035.1:g.37236dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.330dup MANE Select ENSP00000371923.3:p.Lys111GlnfsTer27
ENST00000329335.3:n.580dup
ENST00000382483.3:c.330dup ENSP00000371923.3:p.Lys111GlnfsTer27
NM_178857.5:c.330dup NP_849188.4:p.Lys111GlnfsTer27
NM_178857.6:c.330dup MANE Select NP_849188.4:p.Lys111GlnfsTer27
Search 100 bp 5'
Search 100 bp 3'