Canonical Allele Identifier: CA845125713
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1384304138
gnomAD v4: 8-10612837-CCA-C
MyVariant Identifiers: chr8:g.10470348_10470349del (hg19) chr8:g.10612838_10612839del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612839_10612840del , CM000670.2:g.10612839_10612840del GRCh38
NC_000008.10:g.10470349_10470350del , CM000670.1:g.10470349_10470350del GRCh37
NC_000008.9:g.10507759_10507760del NCBI36
NG_028035.1:g.47269_47270del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1259_1260del MANE Select ENSP00000371923.3:p.Val420GlyfsTer?
ENST00000382483.3:c.1259_1260del ENSP00000371923.3:p.Val420GlyfsTer?
NM_178857.5:c.1259_1260del NP_849188.4:p.Val420GlyfsTer?
NM_178857.6:c.1259_1260del MANE Select NP_849188.4:p.Val420GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'