Canonical Allele Identifier: CA2089972337

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348739_48348741delinsCAT , CM000675.2:g.48348739_48348741delinsCAT	GRCh38
NC_000013.10:g.48922875_48922877delinsCAT , CM000675.1:g.48922875_48922877delinsCAT	GRCh37
NC_000013.9:g.47820876_47820878delinsCAT	NCBI36
NG_009009.1:g.49993_49995delinsCAT , LRG_517:g.49993_49995delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-217_540-215delinsCAT MANE Select	ENSP00000267163.4:n.540-217_540-215delinsCAT
ENST00000650461.1:c.540-217_540-215delinsCAT	ENSP00000497193.1:n.540-217_540-215delinsCAT
ENST00000267163.4:c.540-217_540-215delinsCAT	ENSP00000267163.4:n.540-217_540-215delinsCAT
ENST00000467505.5:c.138-11278_138-11276delinsCAT	ENSP00000434702.1:n.138-11278_138-11276delinsCAT
ENST00000525036.1:n.702-217_702-215delinsCAT
NM_000321.2:c.540-217_540-215delinsCAT , LRG_517t1:c.540-217_540-215delinsCAT	NP_000312.2:n.540-217_540-215delinsCAT
XM_011535171.1:c.279-217_279-215delinsCAT	XP_011533473.1:n.279-217_279-215delinsCAT
XM_011535171.2:c.279-217_279-215delinsCAT	XP_011533473.1:n.279-217_279-215delinsCAT
NM_000321.3:c.540-217_540-215delinsCAT MANE Select	NP_000312.2:n.540-217_540-215delinsCAT