Canonical Allele Identifier: CA2695218627

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459701_48459711delinsGGCT , CM000675.2:g.48459701_48459711delinsGGCT	GRCh38
NC_000013.10:g.49033837_49033847delinsGGCT , CM000675.1:g.49033837_49033847delinsGGCT	GRCh37
NC_000013.9:g.47931838_47931848delinsGGCT	NCBI36
NG_009009.1:g.160955_160965delinsGGCT , LRG_517:g.160955_160965delinsGGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1974_1984delinsGGCT MANE Select	ENSP00000267163.4:p.Tyr659AlafsTer2
ENST00000643064.1:c.194+78258_194+78268delinsGGCT
ENST00000650461.1:c.1974_1984delinsGGCT	ENSP00000497193.1:p.Tyr659AlafsTer2
ENST00000267163.4:c.1974_1984delinsGGCT	ENSP00000267163.4:p.Tyr659AlafsTer2
NM_000321.2:c.1974_1984delinsGGCT , LRG_517t1:c.1974_1984delinsGGCT	NP_000312.2:p.Tyr659AlafsTer2
XM_011535171.1:c.1713_1723delinsGGCT	XP_011533473.1:p.Tyr572AlafsTer2
XM_011535171.2:c.1713_1723delinsGGCT	XP_011533473.1:p.Tyr572AlafsTer2
NM_000321.3:c.1974_1984delinsGGCT MANE Select	NP_000312.2:p.Tyr659AlafsTer2