Canonical Allele Identifier: CA2089972278

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348666_48348668delinsACT , CM000675.2:g.48348666_48348668delinsACT	GRCh38
NC_000013.10:g.48922802_48922804delinsACT , CM000675.1:g.48922802_48922804delinsACT	GRCh37
NC_000013.9:g.47820803_47820805delinsACT	NCBI36
NG_009009.1:g.49920_49922delinsACT , LRG_517:g.49920_49922delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-290_540-288delinsACT MANE Select	ENSP00000267163.4:n.540-290_540-288delinsACT
ENST00000650461.1:c.540-290_540-288delinsACT	ENSP00000497193.1:n.540-290_540-288delinsACT
ENST00000267163.4:c.540-290_540-288delinsACT	ENSP00000267163.4:n.540-290_540-288delinsACT
ENST00000467505.5:c.138-11351_138-11349delinsACT	ENSP00000434702.1:n.138-11351_138-11349delinsACT
ENST00000525036.1:n.702-290_702-288delinsACT
NM_000321.2:c.540-290_540-288delinsACT , LRG_517t1:c.540-290_540-288delinsACT	NP_000312.2:n.540-290_540-288delinsACT
XM_011535171.1:c.279-290_279-288delinsACT	XP_011533473.1:n.279-290_279-288delinsACT
XM_011535171.2:c.279-290_279-288delinsACT	XP_011533473.1:n.279-290_279-288delinsACT
NM_000321.3:c.540-290_540-288delinsACT MANE Select	NP_000312.2:n.540-290_540-288delinsACT