Canonical Allele Identifier: CA2686113542
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612563-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612564del , CM000670.2:g.10612564del GRCh38
NC_000008.10:g.10470074del , CM000670.1:g.10470074del GRCh37
NC_000008.9:g.10507484del NCBI36
NG_028035.1:g.47544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1534del MANE Select ENSP00000371923.3:p.Leu512TrpfsTer10
ENST00000382483.3:c.1534del ENSP00000371923.3:p.Leu512TrpfsTer10
NM_178857.5:c.1534del NP_849188.4:p.Leu512TrpfsTer10
NM_178857.6:c.1534del MANE Select NP_849188.4:p.Leu512TrpfsTer10
Search 100 bp 5'
Search 100 bp 3'