Canonical Allele Identifier: CA2686114315
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622522_10622523del , CM000670.2:g.10622522_10622523del GRCh38
NC_000008.10:g.10480032_10480033del , CM000670.1:g.10480032_10480033del GRCh37
NC_000008.9:g.10517442_10517443del NCBI36
NG_028035.1:g.37592_37593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+77_609+78del MANE Select ENSP00000371923.3:n.609+77_609+78del
ENST00000329335.3:n.859+77_859+78del
ENST00000382483.3:c.609+77_609+78del ENSP00000371923.3:n.609+77_609+78del
NM_178857.5:c.609+77_609+78del NP_849188.4:n.609+77_609+78del
NM_178857.6:c.609+77_609+78del MANE Select NP_849188.4:n.609+77_609+78del