Canonical Allele Identifier: CA1763379008
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612779_10612780delinsTG , CM000670.2:g.10612779_10612780delinsTG GRCh38
NC_000008.10:g.10470289_10470290delinsTG , CM000670.1:g.10470289_10470290delinsTG GRCh37
NC_000008.9:g.10507699_10507700delinsTG NCBI36
NG_028035.1:g.47328_47329delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1318_1319delinsCA MANE Select ENSP00000371923.3:p.His440=
ENST00000382483.3:c.1318_1319delinsCA ENSP00000371923.3:p.His440=
NM_178857.5:c.1318_1319delinsCA NP_849188.4:p.His440=
NM_178857.6:c.1318_1319delinsCA MANE Select NP_849188.4:p.His440=
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