Canonical Allele Identifier: CA2686113579
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612588-CG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612592del , CM000670.2:g.10612592del GRCh38
NC_000008.10:g.10470102del , CM000670.1:g.10470102del GRCh37
NC_000008.9:g.10507512del NCBI36
NG_028035.1:g.47519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1509del MANE Select ENSP00000371923.3:p.Gly504AlafsTer4
ENST00000382483.3:c.1509del ENSP00000371923.3:p.Gly504AlafsTer4
NM_178857.5:c.1509del NP_849188.4:p.Gly504AlafsTer4
NM_178857.6:c.1509del MANE Select NP_849188.4:p.Gly504AlafsTer4
Search 100 bp 5'
Search 100 bp 3'