Canonical Allele Identifier: CA2580077999
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2031388
ClinVar RCV Id: RCV002867173
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622637_10622723dup , CM000670.2:g.10622637_10622723dup GRCh38
NC_000008.10:g.10480147_10480233dup , CM000670.1:g.10480147_10480233dup GRCh37
NC_000008.9:g.10517557_10517643dup NCBI36
NG_028035.1:g.37387_37473dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.481_567dup MANE Select ENSP00000371923.3:p.Leu189_Arg190insAspProArgLeuGlnGlnThrValV...
ENST00000329335.3:n.731_817dup
ENST00000382483.3:c.481_567dup ENSP00000371923.3:p.Leu189_Arg190insAspProArgLeuGlnGlnThrValV...
NM_178857.5:c.481_567dup NP_849188.4:p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuS...
NM_178857.6:c.481_567dup MANE Select NP_849188.4:p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuS...
Search 100 bp 5'
Search 100 bp 3'