Canonical Allele Identifier: CA916082972
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 866442
ClinVar RCV Id: RCV002554719
dbSNP Id: rs1798088088
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622871del , CM000670.2:g.10622871del GRCh38
NC_000008.10:g.10480381del , CM000670.1:g.10480381del GRCh37
NC_000008.9:g.10517791del NCBI36
NG_028035.1:g.37238del

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.332del MANE Select ENSP00000371923.3:p.Lys111ArgfsTer?
ENST00000329335.3:n.582del
ENST00000382483.3:c.332del ENSP00000371923.3:p.Lys111ArgfsTer?
NM_178857.5:c.332del NP_849188.4:p.Lys111ArgfsTer?
NM_178857.6:c.332del MANE Select NP_849188.4:p.Lys111ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'