Canonical Allele Identifier: CA370280014
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608193_10608240del , CM000670.2:g.10608193_10608240del GRCh38
NC_000008.10:g.10465703_10465750del , CM000670.1:g.10465703_10465750del GRCh37
NC_000008.9:g.10503113_10503160del NCBI36
NG_028035.1:g.51869_51916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5859_5906del MANE Select ENSP00000371923.3:p.Thr1954_Glu1969del
ENST00000382483.3:c.5859_5906del ENSP00000371923.3:p.Thr1954_Glu1969del
NM_178857.5:c.5859_5906del NP_849188.4:p.Thr1954_Glu1969del
NM_178857.6:c.5859_5906del MANE Select NP_849188.4:p.Thr1954_Glu1969del