Canonical Allele Identifier: CA2090019590

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459703_48459722delinsATCTCCGGCTAAATACACTT , CM000675.2:g.48459703_48459722delinsATCTCCGGCTAAATACACTT	GRCh38
NC_000013.10:g.49033839_49033858delinsATCTCCGGCTAAATACACTT , CM000675.1:g.49033839_49033858delinsATCTCCGGCTAAATACACTT	GRCh37
NC_000013.9:g.47931840_47931859delinsATCTCCGGCTAAATACACTT	NCBI36
NG_009009.1:g.160957_160976delinsATCTCCGGCTAAATACACTT , LRG_517:g.160957_160976delinsATCTCCGGCTAAATACACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1976_1995delinsATCTCCGGCTAAATACACTT MANE Select	ENSP00000267163.4:p.Tyr659=
ENST00000643064.1:c.194+78260_194+78279delinsATCTCCGGCTAAATACACTT
ENST00000650461.1:c.1976_1995delinsATCTCCGGCTAAATACACTT	ENSP00000497193.1:p.Tyr659=
ENST00000267163.4:c.1976_1995delinsATCTCCGGCTAAATACACTT	ENSP00000267163.4:p.Tyr659=
NM_000321.2:c.1976_1995delinsATCTCCGGCTAAATACACTT , LRG_517t1:c.1976_1995delinsATCTCCGGCTAAATACACTT	NP_000312.2:p.Tyr659=
XM_011535171.1:c.1715_1734delinsATCTCCGGCTAAATACACTT	XP_011533473.1:p.Tyr572=
XM_011535171.2:c.1715_1734delinsATCTCCGGCTAAATACACTT	XP_011533473.1:p.Tyr572=
NM_000321.3:c.1976_1995delinsATCTCCGGCTAAATACACTT MANE Select	NP_000312.2:p.Tyr659=