Canonical Allele Identifier: CA2089967290

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342603_48342608delinsGTTATA , CM000675.2:g.48342603_48342608delinsGTTATA	GRCh38
NC_000013.10:g.48916739_48916744delinsGTTATA , CM000675.1:g.48916739_48916744delinsGTTATA	GRCh37
NC_000013.9:g.47814740_47814745delinsGTTATA	NCBI36
NG_009009.1:g.43857_43862delinsGTTATA , LRG_517:g.43857_43862delinsGTTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.269_274delinsGTTATA MANE Select	ENSP00000267163.4:p.Gly90=
ENST00000650461.1:c.269_274delinsGTTATA	ENSP00000497193.1:p.Gly90=
ENST00000267163.4:c.269_274delinsGTTATA	ENSP00000267163.4:p.Gly90=
ENST00000467505.5:c.138-17414_138-17409delinsGTTATA	ENSP00000434702.1:n.138-17414_138-17409delinsGTTATA
ENST00000525036.1:n.431_436delinsGTTATA
NM_000321.2:c.269_274delinsGTTATA , LRG_517t1:c.269_274delinsGTTATA	NP_000312.2:p.Gly90=
XM_011535171.1:c.8_13delinsGTTATA	XP_011533473.1:p.Gly3=
XM_011535171.2:c.8_13delinsGTTATA	XP_011533473.1:p.Gly3=
NM_000321.3:c.269_274delinsGTTATA MANE Select	NP_000312.2:p.Gly90=