Canonical Allele Identifier: CA2686113010
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10608126-C-CCTTCTGCCTCCTGGGTCTCCACTTCAACCTCCAGGGCCTCTACATCTTCTGACTCTGGCTGGGCTTCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608142_10608210dup , CM000670.2:g.10608142_10608210dup GRCh38
NC_000008.10:g.10465652_10465720dup , CM000670.1:g.10465652_10465720dup GRCh37
NC_000008.9:g.10503062_10503130dup NCBI36
NG_028035.1:g.51913_51981dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5903_5971dup MANE Select ENSP00000371923.3:p.Glu1990_Gly1991insGluGluAlaGlnProGluSerGl...
ENST00000382483.3:c.5903_5971dup ENSP00000371923.3:p.Glu1990_Gly1991insGluGluAlaGlnProGluSerGl...
NM_178857.5:c.5903_5971dup NP_849188.4:p.Glu1990_Gly1991insGluGluAlaGlnProGluSerGluAspVa...
NM_178857.6:c.5903_5971dup MANE Select NP_849188.4:p.Glu1990_Gly1991insGluGluAlaGlnProGluSerGluAspVa...
Search 100 bp 5'
Search 100 bp 3'