Canonical Allele Identifier: CA2686113014
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10608171-TCTTCTGACTCTGGCTGGGCTTCCTCTTCTGCCTCCTGGGACTCTATAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608190_10608237del , CM000670.2:g.10608190_10608237del GRCh38
NC_000008.10:g.10465700_10465747del , CM000670.1:g.10465700_10465747del GRCh37
NC_000008.9:g.10503110_10503157del NCBI36
NG_028035.1:g.51889_51936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5879_5926del MANE Select ENSP00000371923.3:p.Val1960_Glu1975del
ENST00000382483.3:c.5879_5926del ENSP00000371923.3:p.Val1960_Glu1975del
NM_178857.5:c.5879_5926del NP_849188.4:p.Val1960_Glu1975del
NM_178857.6:c.5879_5926del MANE Select NP_849188.4:p.Val1960_Glu1975del
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