Canonical Allele Identifier: CA3062864998

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342669_48342675delinsTG , CM000675.2:g.48342669_48342675delinsTG	GRCh38
NC_000013.10:g.48916805_48916811delinsTG , CM000675.1:g.48916805_48916811delinsTG	GRCh37
NC_000013.9:g.47814806_47814812delinsTG	NCBI36
NG_009009.1:g.43923_43929delinsTG , LRG_517:g.43923_43929delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.335_341delinsTG MANE Select	ENSP00000267163.4:p.Glu112ValfsTer6
ENST00000650461.1:c.335_341delinsTG	ENSP00000497193.1:p.Glu112ValfsTer6
ENST00000267163.4:c.335_341delinsTG	ENSP00000267163.4:p.Glu112ValfsTer6
ENST00000467505.5:c.138-17348_138-17342delinsTG	ENSP00000434702.1:n.138-17348_138-17342delinsTG
ENST00000525036.1:n.497_503delinsTG
NM_000321.2:c.335_341delinsTG , LRG_517t1:c.335_341delinsTG	NP_000312.2:p.Glu112ValfsTer6
XM_011535171.1:c.74_80delinsTG	XP_011533473.1:p.Glu25ValfsTer6
XM_011535171.2:c.74_80delinsTG	XP_011533473.1:p.Glu25ValfsTer6
NM_000321.3:c.335_341delinsTG MANE Select	NP_000312.2:p.Glu112ValfsTer6