Canonical Allele Identifier: CA2622979132

Gene: RB1

Linked Data

• gnomAD v4: 13-48348898-ACTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348904_48348907del , CM000675.2:g.48348904_48348907del	GRCh38
NC_000013.10:g.48923040_48923043del , CM000675.1:g.48923040_48923043del	GRCh37
NC_000013.9:g.47821041_47821044del	NCBI36
NG_009009.1:g.50158_50161del , LRG_517:g.50158_50161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-52_540-49del MANE Select	ENSP00000267163.4:n.540-52_540-49del
ENST00000650461.1:c.540-52_540-49del	ENSP00000497193.1:n.540-52_540-49del
ENST00000267163.4:c.540-52_540-49del	ENSP00000267163.4:n.540-52_540-49del
ENST00000467505.5:c.138-11113_138-11110del	ENSP00000434702.1:n.138-11113_138-11110del
ENST00000525036.1:n.702-52_702-49del
NM_000321.2:c.540-52_540-49del , LRG_517t1:c.540-52_540-49del	NP_000312.2:n.540-52_540-49del
XM_011535171.1:c.279-52_279-49del	XP_011533473.1:n.279-52_279-49del
XM_011535171.2:c.279-52_279-49del	XP_011533473.1:n.279-52_279-49del
NM_000321.3:c.540-52_540-49del MANE Select	NP_000312.2:n.540-52_540-49del