Canonical Allele Identifier: CA1110639018
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v3: 8-10608210-GACTCTATAACTTCTGACTCTGGCTGGGTCTGC-G
gnomAD v4: 8-10608210-GACTCTATAACTTCTGACTCTGGCTGGGTCTGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608211_10608242del , CM000670.2:g.10608211_10608242del GRCh38
NC_000008.10:g.10465721_10465752del , CM000670.1:g.10465721_10465752del GRCh37
NC_000008.9:g.10503131_10503162del NCBI36
NG_028035.1:g.51866_51897del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5856_5887del MANE Select ENSP00000371923.3:p.Gln1953ProfsTer20
ENST00000382483.3:c.5856_5887del ENSP00000371923.3:p.Gln1953ProfsTer20
NM_178857.5:c.5856_5887del NP_849188.4:p.Gln1953ProfsTer20
NM_178857.6:c.5856_5887del MANE Select NP_849188.4:p.Gln1953ProfsTer20
Search 100 bp 5'
Search 100 bp 3'