Canonical Allele Identifier: CA2579753932
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582053
ClinVar RCV Id: RCV003332759
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10607629_10608237del , CM000670.2:g.10607629_10608237del GRCh38
NC_000008.10:g.10465139_10465747del , CM000670.1:g.10465139_10465747del GRCh37
NC_000008.9:g.10502549_10503157del NCBI36
NG_028035.1:g.51889_52497del

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5879_6487del MANE Select ENSP00000371923.3:p.Val1960_Glu2162del
ENST00000382483.3:c.5879_6487del ENSP00000371923.3:p.Val1960_Glu2162del
NM_178857.5:c.5879_6487del NP_849188.4:p.Val1960_Glu2162del
NM_178857.6:c.5879_6487del MANE Select NP_849188.4:p.Val1960_Glu2162del
Search 100 bp 5'
Search 100 bp 3'