Canonical Allele Identifier: CA2090013590

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48464947_48464949delinsAGT , CM000675.2:g.48464947_48464949delinsAGT	GRCh38
NC_000013.10:g.49039083_49039085delinsAGT , CM000675.1:g.49039083_49039085delinsAGT	GRCh37
NC_000013.9:g.47937084_47937086delinsAGT	NCBI36
NG_009009.1:g.166201_166203delinsAGT , LRG_517:g.166201_166203delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.2212-51_2212-49delinsAGT MANE Select	ENSP00000267163.4:n.2212-51_2212-49delins...
ENST00000643064.1:c.194+83504_194+83506delinsAGT
ENST00000650461.1:c.2212-51_2212-49delinsAGT	ENSP00000497193.1:n.2212-51_2212-49delins...
ENST00000267163.4:c.2212-51_2212-49delinsAGT	ENSP00000267163.4:n.2212-51_2212-49delins...
NM_000321.2:c.2212-51_2212-49delinsAGT , LRG_517t1:c.2212-51_2212-49delinsAGT	NP_000312.2:n.2212-51_2212-49delinsAGT
XM_011535171.1:c.1951-51_1951-49delinsAGT	XP_011533473.1:n.1951-51_1951-49delinsAGT...
XM_011535171.2:c.1951-51_1951-49delinsAGT	XP_011533473.1:n.1951-51_1951-49delinsAGT...
NM_000321.3:c.2212-51_2212-49delinsAGT MANE Select	NP_000312.2:n.2212-51_2212-49delinsAGT