Canonical Allele Identifier: CA2090019547

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459692_48459707delinsTCGGCTAGCCTATCTC , CM000675.2:g.48459692_48459707delinsTCGGCTAGCCTATCTC	GRCh38
NC_000013.10:g.49033828_49033843delinsTCGGCTAGCCTATCTC , CM000675.1:g.49033828_49033843delinsTCGGCTAGCCTATCTC	GRCh37
NC_000013.9:g.47931829_47931844delinsTCGGCTAGCCTATCTC	NCBI36
NG_009009.1:g.160946_160961delinsTCGGCTAGCCTATCTC , LRG_517:g.160946_160961delinsTCGGCTAGCCTATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1965_1980delinsTCGGCTAGCCTATCTC MANE Select	ENSP00000267163.4:p.Tyr655=
ENST00000643064.1:c.194+78249_194+78264delinsTCGGCTAGCCTATCTC
ENST00000650461.1:c.1965_1980delinsTCGGCTAGCCTATCTC	ENSP00000497193.1:p.Tyr655=
ENST00000267163.4:c.1965_1980delinsTCGGCTAGCCTATCTC	ENSP00000267163.4:p.Tyr655=
NM_000321.2:c.1965_1980delinsTCGGCTAGCCTATCTC , LRG_517t1:c.1965_1980delinsTCGGCTAGCCTATCTC	NP_000312.2:p.Tyr655=
XM_011535171.1:c.1704_1719delinsTCGGCTAGCCTATCTC	XP_011533473.1:p.Tyr568=
XM_011535171.2:c.1704_1719delinsTCGGCTAGCCTATCTC	XP_011533473.1:p.Tyr568=
NM_000321.3:c.1965_1980delinsTCGGCTAGCCTATCTC MANE Select	NP_000312.2:p.Tyr655=