Canonical Allele Identifier: CA249269234

Gene: RB1

Linked Data

• dbSNP Id: rs869249125

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348735del , CM000675.2:g.48348735del	GRCh38
NC_000013.10:g.48922871del , CM000675.1:g.48922871del	GRCh37
NC_000013.9:g.47820872del	NCBI36
NG_009009.1:g.49989del , LRG_517:g.49989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-221del MANE Select	ENSP00000267163.4:n.540-221del
ENST00000650461.1:c.540-221del	ENSP00000497193.1:n.540-221del
ENST00000267163.4:c.540-221del	ENSP00000267163.4:n.540-221del
ENST00000467505.5:c.138-11282del	ENSP00000434702.1:n.138-11282del
ENST00000525036.1:n.702-221del
NM_000321.2:c.540-221del , LRG_517t1:c.540-221del	NP_000312.2:n.540-221del
XM_011535171.1:c.279-221del	XP_011533473.1:n.279-221del
XM_011535171.2:c.279-221del	XP_011533473.1:n.279-221del
NM_000321.3:c.540-221del MANE Select	NP_000312.2:n.540-221del