Canonical Allele Identifier: CA1763378758
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612602_10612603delinsAG , CM000670.2:g.10612602_10612603delinsAG GRCh38
NC_000008.10:g.10470112_10470113delinsAG , CM000670.1:g.10470112_10470113delinsAG GRCh37
NC_000008.9:g.10507522_10507523delinsAG NCBI36
NG_028035.1:g.47505_47506delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1495_1496delinsCT MANE Select ENSP00000371923.3:p.Leu499=
ENST00000382483.3:c.1495_1496delinsCT ENSP00000371923.3:p.Leu499=
NM_178857.5:c.1495_1496delinsCT NP_849188.4:p.Leu499=
NM_178857.6:c.1495_1496delinsCT MANE Select NP_849188.4:p.Leu499=
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