Canonical Allele Identifier: CA1763389351
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622528_10622532delinsTGTGA , CM000670.2:g.10622528_10622532delinsTGTGA GRCh38
NC_000008.10:g.10480038_10480042delinsTGTGA , CM000670.1:g.10480038_10480042delinsTGTGA GRCh37
NC_000008.9:g.10517448_10517452delinsTGTGA NCBI36
NG_028035.1:g.37576_37580delinsTCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+61_609+65delinsTCACA MANE Select ENSP00000371923.3:n.609+61_609+65delinsTCACA
ENST00000329335.3:n.859+61_859+65delinsTCACA
ENST00000382483.3:c.609+61_609+65delinsTCACA ENSP00000371923.3:n.609+61_609+65delinsTCACA
NM_178857.5:c.609+61_609+65delinsTCACA NP_849188.4:n.609+61_609+65delinsTCACA
NM_178857.6:c.609+61_609+65delinsTCACA MANE Select NP_849188.4:n.609+61_609+65delinsTCACA