Canonical Allele Identifier: CA2089972435

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348936_48348940delinsGCTTT , CM000675.2:g.48348936_48348940delinsGCTTT	GRCh38
NC_000013.10:g.48923072_48923076delinsGCTTT , CM000675.1:g.48923072_48923076delinsGCTTT	GRCh37
NC_000013.9:g.47821073_47821077delinsGCTTT	NCBI36
NG_009009.1:g.50190_50194delinsGCTTT , LRG_517:g.50190_50194delinsGCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-20_540-16delinsGCTTT MANE Select	ENSP00000267163.4:n.540-20_540-16delinsGCTTT
ENST00000650461.1:c.540-20_540-16delinsGCTTT	ENSP00000497193.1:n.540-20_540-16delinsGCTTT
ENST00000267163.4:c.540-20_540-16delinsGCTTT	ENSP00000267163.4:n.540-20_540-16delinsGCTTT
ENST00000467505.5:c.138-11081_138-11077delinsGCTTT	ENSP00000434702.1:n.138-11081_138-11077delinsGCTTT
ENST00000525036.1:n.702-20_702-16delinsGCTTT
NM_000321.2:c.540-20_540-16delinsGCTTT , LRG_517t1:c.540-20_540-16delinsGCTTT	NP_000312.2:n.540-20_540-16delinsGCTTT
XM_011535171.1:c.279-20_279-16delinsGCTTT	XP_011533473.1:n.279-20_279-16delinsGCTTT
XM_011535171.2:c.279-20_279-16delinsGCTTT	XP_011533473.1:n.279-20_279-16delinsGCTTT
NM_000321.3:c.540-20_540-16delinsGCTTT MANE Select	NP_000312.2:n.540-20_540-16delinsGCTTT