Canonical Allele Identifier: CA2532208153

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348759del , CM000675.2:g.48348759del	GRCh38
NC_000013.10:g.48922895del , CM000675.1:g.48922895del	GRCh37
NC_000013.9:g.47820896del	NCBI36
NG_009009.1:g.50013del , LRG_517:g.50013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-197del MANE Select	ENSP00000267163.4:n.540-197del
ENST00000650461.1:c.540-197del	ENSP00000497193.1:n.540-197del
ENST00000267163.4:c.540-197del	ENSP00000267163.4:n.540-197del
ENST00000467505.5:c.138-11258del	ENSP00000434702.1:n.138-11258del
ENST00000525036.1:n.702-197del
NM_000321.2:c.540-197del , LRG_517t1:c.540-197del	NP_000312.2:n.540-197del
XM_011535171.1:c.279-197del	XP_011533473.1:n.279-197del
XM_011535171.2:c.279-197del	XP_011533473.1:n.279-197del
NM_000321.3:c.540-197del MANE Select	NP_000312.2:n.540-197del