Canonical Allele Identifier: CA2089972237

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348603_48348604delinsAT , CM000675.2:g.48348603_48348604delinsAT	GRCh38
NC_000013.10:g.48922739_48922740delinsAT , CM000675.1:g.48922739_48922740delinsAT	GRCh37
NC_000013.9:g.47820740_47820741delinsAT	NCBI36
NG_009009.1:g.49857_49858delinsAT , LRG_517:g.49857_49858delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-353_540-352delinsAT MANE Select	ENSP00000267163.4:n.540-353_540-352delinsAT
ENST00000650461.1:c.540-353_540-352delinsAT	ENSP00000497193.1:n.540-353_540-352delinsAT
ENST00000267163.4:c.540-353_540-352delinsAT	ENSP00000267163.4:n.540-353_540-352delinsAT
ENST00000467505.5:c.138-11414_138-11413delinsAT	ENSP00000434702.1:n.138-11414_138-11413delinsAT
ENST00000525036.1:n.702-353_702-352delinsAT
NM_000321.2:c.540-353_540-352delinsAT , LRG_517t1:c.540-353_540-352delinsAT	NP_000312.2:n.540-353_540-352delinsAT
XM_011535171.1:c.279-353_279-352delinsAT	XP_011533473.1:n.279-353_279-352delinsAT
XM_011535171.2:c.279-353_279-352delinsAT	XP_011533473.1:n.279-353_279-352delinsAT
NM_000321.3:c.540-353_540-352delinsAT MANE Select	NP_000312.2:n.540-353_540-352delinsAT