Canonical Allele Identifier: CA645560803
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622949_10622950delinsAA , CM000670.2:g.10622949_10622950delinsAA GRCh38
NC_000008.10:g.10480459_10480460delinsAA , CM000670.1:g.10480459_10480460delinsAA GRCh37
NC_000008.9:g.10517869_10517870delinsAA NCBI36
NG_028035.1:g.37158_37159delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.252_253delinsTT MANE Select ENSP00000371923.3:p.Arg85Trp
ENST00000329335.3:n.502_503delinsTT
ENST00000382483.3:c.252_253delinsTT ENSP00000371923.3:p.Arg85Trp
NM_178857.5:c.252_253delinsTT NP_849188.4:p.Arg85Trp
NM_178857.6:c.252_253delinsTT MANE Select NP_849188.4:p.Arg85Trp