Canonical Allele Identifier: CA918199243
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1563120384
gnomAD v3: 8-10608178-A-ACTCTGGCTGGGCTTCCTCTTCTGC
gnomAD v4: 8-10608178-A-ACTCTGGCTGGGCTTCCTCTTCTGC
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608182_10608205dup , CM000670.2:g.10608182_10608205dup GRCh38
NC_000008.10:g.10465692_10465715dup , CM000670.1:g.10465692_10465715dup GRCh37
NC_000008.9:g.10503102_10503125dup NCBI36
NG_028035.1:g.51906_51929dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5896_5919dup MANE Select ENSP00000371923.3:p.Glu1973_Ser1974insAlaGluGluGluAlaGlnProGl...
ENST00000382483.3:c.5896_5919dup ENSP00000371923.3:p.Glu1973_Ser1974insAlaGluGluGluAlaGlnProGl...
NM_178857.5:c.5896_5919dup NP_849188.4:p.Glu1973_Ser1974insAlaGluGluGluAlaGlnProGlu
NM_178857.6:c.5896_5919dup MANE Select NP_849188.4:p.Glu1973_Ser1974insAlaGluGluGluAlaGlnProGlu
Search 100 bp 5'
Search 100 bp 3'