Canonical Allele Identifier: CA2686113534
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612558-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612559del , CM000670.2:g.10612559del GRCh38
NC_000008.10:g.10470069del , CM000670.1:g.10470069del GRCh37
NC_000008.9:g.10507479del NCBI36
NG_028035.1:g.47549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1539del MANE Select ENSP00000371923.3:p.Gly514AlafsTer8
ENST00000382483.3:c.1539del ENSP00000371923.3:p.Gly514AlafsTer8
NM_178857.5:c.1539del NP_849188.4:p.Gly514AlafsTer8
NM_178857.6:c.1539del MANE Select NP_849188.4:p.Gly514AlafsTer8
Search 100 bp 5'
Search 100 bp 3'