Canonical Allele Identifier: CA171954798
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10480380_10480381insG (hg19) chr8:g.10622870_10622871insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622870_10622871insG , CM000670.2:g.10622870_10622871insG GRCh38
NC_000008.10:g.10480380_10480381insG , CM000670.1:g.10480380_10480381insG GRCh37
NC_000008.9:g.10517790_10517791insG NCBI36
NG_028035.1:g.37237_37238insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.331_332insC MANE Select ENSP00000371923.3:p.Lys111ThrfsTer27
ENST00000329335.3:n.581_582insC
ENST00000382483.3:c.331_332insC ENSP00000371923.3:p.Lys111ThrfsTer27
NM_178857.5:c.331_332insC NP_849188.4:p.Lys111ThrfsTer27
NM_178857.6:c.331_332insC MANE Select NP_849188.4:p.Lys111ThrfsTer27
Search 100 bp 5'
Search 100 bp 3'