Canonical Allele Identifier: CA1763379205
Gene: RP1L1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612919_10612927delinsTTCCCTGCA , CM000670.2:g.10612919_10612927delinsTTCCCTGCA GRCh38
NC_000008.10:g.10470429_10470437delinsTTCCCTGCA , CM000670.1:g.10470429_10470437delinsTTCCCTGCA GRCh37
NC_000008.9:g.10507839_10507847delinsTTCCCTGCA NCBI36
NG_028035.1:g.47181_47189delinsTGCAGGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1171_1179delinsTGCAGGGAA MANE Select ENSP00000371923.3:p.Cys391=
ENST00000382483.3:c.1171_1179delinsTGCAGGGAA ENSP00000371923.3:p.Cys391=
NM_178857.5:c.1171_1179delinsTGCAGGGAA NP_849188.4:p.Cys391=
NM_178857.6:c.1171_1179delinsTGCAGGGAA MANE Select NP_849188.4:p.Cys391=
Search 100 bp 5'
Search 100 bp 3'