Canonical Allele Identifier: CA1763389338
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622518_10622519delinsCT , CM000670.2:g.10622518_10622519delinsCT GRCh38
NC_000008.10:g.10480028_10480029delinsCT , CM000670.1:g.10480028_10480029delinsCT GRCh37
NC_000008.9:g.10517438_10517439delinsCT NCBI36
NG_028035.1:g.37589_37590delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+74_609+75delinsAG MANE Select ENSP00000371923.3:n.609+74_609+75delinsAG
ENST00000329335.3:n.859+74_859+75delinsAG
ENST00000382483.3:c.609+74_609+75delinsAG ENSP00000371923.3:n.609+74_609+75delinsAG
NM_178857.5:c.609+74_609+75delinsAG NP_849188.4:n.609+74_609+75delinsAG
NM_178857.6:c.609+74_609+75delinsAG MANE Select NP_849188.4:n.609+74_609+75delinsAG