Canonical Allele Identifier: CA2695218499

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381319_48381321del , CM000675.2:g.48381319_48381321del	GRCh38
NC_000013.10:g.48955455_48955457del , CM000675.1:g.48955455_48955457del	GRCh37
NC_000013.9:g.47853456_47853458del	NCBI36
NG_009009.1:g.82573_82575del , LRG_517:g.82573_82575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1571_1573del MANE Select	ENSP00000267163.4:p.Lys524_Ala525delinsThr
ENST00000643064.1:c.70_72del
ENST00000650461.1:c.1571_1573del	ENSP00000497193.1:p.Lys524_Ala525delinsThr
ENST00000267163.4:c.1571_1573del	ENSP00000267163.4:p.Lys524_Ala525delinsThr
NM_000321.2:c.1571_1573del , LRG_517t1:c.1571_1573del	NP_000312.2:p.Lys524_Ala525delinsThr
XM_011535171.1:c.1310_1312del	XP_011533473.1:p.Lys437_Ala438delinsThr
XM_011535171.2:c.1310_1312del	XP_011533473.1:p.Lys437_Ala438delinsThr
NM_000321.3:c.1571_1573del MANE Select	NP_000312.2:p.Lys524_Ala525delinsThr