Canonical Allele Identifier: CA2089972291

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348680_48348681delinsAT , CM000675.2:g.48348680_48348681delinsAT	GRCh38
NC_000013.10:g.48922816_48922817delinsAT , CM000675.1:g.48922816_48922817delinsAT	GRCh37
NC_000013.9:g.47820817_47820818delinsAT	NCBI36
NG_009009.1:g.49934_49935delinsAT , LRG_517:g.49934_49935delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-276_540-275delinsAT MANE Select	ENSP00000267163.4:n.540-276_540-275delinsAT
ENST00000650461.1:c.540-276_540-275delinsAT	ENSP00000497193.1:n.540-276_540-275delinsAT
ENST00000267163.4:c.540-276_540-275delinsAT	ENSP00000267163.4:n.540-276_540-275delinsAT
ENST00000467505.5:c.138-11337_138-11336delinsAT	ENSP00000434702.1:n.138-11337_138-11336delinsAT
ENST00000525036.1:n.702-276_702-275delinsAT
NM_000321.2:c.540-276_540-275delinsAT , LRG_517t1:c.540-276_540-275delinsAT	NP_000312.2:n.540-276_540-275delinsAT
XM_011535171.1:c.279-276_279-275delinsAT	XP_011533473.1:n.279-276_279-275delinsAT
XM_011535171.2:c.279-276_279-275delinsAT	XP_011533473.1:n.279-276_279-275delinsAT
NM_000321.3:c.540-276_540-275delinsAT MANE Select	NP_000312.2:n.540-276_540-275delinsAT