Canonical Allele Identifier: CA2089983395

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48367422_48367448delinsATCTGTGCCTCTGTGTGCTGAGAGATG , CM000675.2:g.48367422_48367448delinsATCTGTGCCTCTGTGTGCTGAGAGATG	GRCh38
NC_000013.10:g.48941558_48941584delinsATCTGTGCCTCTGTGTGCTGAGAGATG , CM000675.1:g.48941558_48941584delinsATCTGTGCCTCTGTGTGCTGAGAGATG	GRCh37
NC_000013.9:g.47839559_47839585delinsATCTGTGCCTCTGTGTGCTGAGAGATG	NCBI36
NG_009009.1:g.68676_68702delinsATCTGTGCCTCTGTGTGCTGAGAGATG , LRG_517:g.68676_68702delinsATCTGTGCCTCTGTGTGCTGAGAGATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG MANE Select	ENSP00000267163.4:n.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAG...
ENST00000650461.1:c.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG	ENSP00000497193.1:n.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAG...
ENST00000267163.4:c.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG	ENSP00000267163.4:n.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAG...
NM_000321.2:c.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG , LRG_517t1:c.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG	NP_000312.2:n.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG
XM_011535171.1:c.679-72_679-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG	XP_011533473.1:n.679-72_679-46delinsATCTGTGCCTCTGTGTGCTGAGAGA...
XM_011535171.2:c.679-72_679-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG	XP_011533473.1:n.679-72_679-46delinsATCTGTGCCTCTGTGTGCTGAGAGA...
XR_002957522.1:n.122-2472_122-2446delinsCATCTCTCAGCACACAGAGGCACAGAT
NM_000321.3:c.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG MANE Select	NP_000312.2:n.940-72_940-46delinsATCTGTGCCTCTGTGTGCTGAGAGATG