Canonical Allele Identifier: CA645560582

Gene: RP1

Linked Data

• COSMIC: COSM4517695

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627877_54627878delinsTT , CM000670.2:g.54627877_54627878delinsTT	GRCh38
NC_000008.10:g.55540437_55540438delinsTT , CM000670.1:g.55540437_55540438delinsTT	GRCh37
NC_000008.9:g.55702990_55702991delinsTT	NCBI36
NG_009840.1:g.16811_16812delinsTT
NG_009840.2:g.16811_16812delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3995_3996delinsTT MANE Select	ENSP00000220676.1:p.Thr1332Ile
ENST00000636932.1:c.787+5589_787+5590delinsTT	ENSP00000489857.1:n.787+5589_787+5590delinsTT
ENST00000637698.1:c.787+5589_787+5590delinsTT	ENSP00000490104.1:n.787+5589_787+5590delinsTT
ENST00000220676.1:c.3995_3996delinsTT	ENSP00000220676.1:p.Thr1332Ile
NM_006269.1:c.3995_3996delinsTT	NP_006260.1:p.Thr1332Ile
XM_017013721.1:c.4016_4017delinsTT	XP_016869210.1:p.Thr1339Ile
XM_017013722.1:c.3995_3996delinsTT	XP_016869211.1:p.Thr1332Ile
NM_001375654.1:c.787+5589_787+5590delinsTT	NP_001362583.1:n.787+5589_787+5590delinsTT
NM_006269.2:c.3995_3996delinsTT MANE Select	NP_006260.1:p.Thr1332Ile