Canonical Allele Identifier: CA2089972347

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348763_48348764delinsGA , CM000675.2:g.48348763_48348764delinsGA	GRCh38
NC_000013.10:g.48922899_48922900delinsGA , CM000675.1:g.48922899_48922900delinsGA	GRCh37
NC_000013.9:g.47820900_47820901delinsGA	NCBI36
NG_009009.1:g.50017_50018delinsGA , LRG_517:g.50017_50018delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-193_540-192delinsGA MANE Select	ENSP00000267163.4:n.540-193_540-192delinsGA
ENST00000650461.1:c.540-193_540-192delinsGA	ENSP00000497193.1:n.540-193_540-192delinsGA
ENST00000267163.4:c.540-193_540-192delinsGA	ENSP00000267163.4:n.540-193_540-192delinsGA
ENST00000467505.5:c.138-11254_138-11253delinsGA	ENSP00000434702.1:n.138-11254_138-11253delinsGA
ENST00000525036.1:n.702-193_702-192delinsGA
NM_000321.2:c.540-193_540-192delinsGA , LRG_517t1:c.540-193_540-192delinsGA	NP_000312.2:n.540-193_540-192delinsGA
XM_011535171.1:c.279-193_279-192delinsGA	XP_011533473.1:n.279-193_279-192delinsGA
XM_011535171.2:c.279-193_279-192delinsGA	XP_011533473.1:n.279-193_279-192delinsGA
NM_000321.3:c.540-193_540-192delinsGA MANE Select	NP_000312.2:n.540-193_540-192delinsGA