Canonical Allele Identifier: CA2089971097

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380127_48380131delinsGAAGT , CM000675.2:g.48380127_48380131delinsGAAGT	GRCh38
NC_000013.10:g.48954263_48954267delinsGAAGT , CM000675.1:g.48954263_48954267delinsGAAGT	GRCh37
NC_000013.9:g.47852264_47852268delinsGAAGT	NCBI36
NG_009009.1:g.81381_81385delinsGAAGT , LRG_517:g.81381_81385delinsGAAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1422-38_1422-34delinsGAAGT MANE Select	ENSP00000267163.4:n.1422-38_1422-34delins...
ENST00000650461.1:c.1422-38_1422-34delinsGAAGT	ENSP00000497193.1:n.1422-38_1422-34delins...
ENST00000267163.4:c.1422-38_1422-34delinsGAAGT	ENSP00000267163.4:n.1422-38_1422-34delins...
NM_000321.2:c.1422-38_1422-34delinsGAAGT , LRG_517t1:c.1422-38_1422-34delinsGAAGT	NP_000312.2:n.1422-38_1422-34delinsGAAGT
XM_011535171.1:c.1161-38_1161-34delinsGAAGT	XP_011533473.1:n.1161-38_1161-34delinsGAA...
XM_011535171.2:c.1161-38_1161-34delinsGAAGT	XP_011533473.1:n.1161-38_1161-34delinsGAA...
NM_000321.3:c.1422-38_1422-34delinsGAAGT MANE Select	NP_000312.2:n.1422-38_1422-34delinsGAAGT