Canonical Allele Identifier: CA1763389385
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622555_10622556delinsGA , CM000670.2:g.10622555_10622556delinsGA GRCh38
NC_000008.10:g.10480065_10480066delinsGA , CM000670.1:g.10480065_10480066delinsGA GRCh37
NC_000008.9:g.10517475_10517476delinsGA NCBI36
NG_028035.1:g.37552_37553delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+37_609+38delinsTC MANE Select ENSP00000371923.3:n.609+37_609+38delinsTC
ENST00000329335.3:n.859+37_859+38delinsTC
ENST00000382483.3:c.609+37_609+38delinsTC ENSP00000371923.3:n.609+37_609+38delinsTC
NM_178857.5:c.609+37_609+38delinsTC NP_849188.4:n.609+37_609+38delinsTC
NM_178857.6:c.609+37_609+38delinsTC MANE Select NP_849188.4:n.609+37_609+38delinsTC