Canonical Allele Identifier: CA1785188150
Gene: RP1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626078_54626079delinsGA , CM000670.2:g.54626078_54626079delinsGA GRCh38
NC_000008.10:g.55538638_55538639delinsGA , CM000670.1:g.55538638_55538639delinsGA GRCh37
NC_000008.9:g.55701191_55701192delinsGA NCBI36
NG_009840.1:g.15012_15013delinsGA
NG_009840.2:g.15012_15013delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.2196_2197delinsGA MANE Select ENSP00000220676.1:p.Gln732=
ENST00000636932.1:c.787+3790_787+3791delinsGA ENSP00000489857.1:n.787+3790_787+3791delinsGA
ENST00000637698.1:c.787+3790_787+3791delinsGA ENSP00000490104.1:n.787+3790_787+3791delinsGA
ENST00000220676.1:c.2196_2197delinsGA ENSP00000220676.1:p.Gln732=
NM_006269.1:c.2196_2197delinsGA NP_006260.1:p.Gln732=
XM_017013721.1:c.2217_2218delinsGA XP_016869210.1:p.Gln739=
XM_017013722.1:c.2196_2197delinsGA XP_016869211.1:p.Gln732=
NM_001375654.1:c.787+3790_787+3791delinsGA NP_001362583.1:n.787+3790_787+3791delinsGA
NM_006269.2:c.2196_2197delinsGA MANE Select NP_006260.1:p.Gln732=
Search 100 bp 5'
Search 100 bp 3'