Canonical Allele Identifier: CA2622980512

Gene: RB1

Linked Data

• gnomAD v4: 13-48368621-TTTTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48368624_48368628del , CM000675.2:g.48368624_48368628del	GRCh38
NC_000013.10:g.48942760_48942764del , CM000675.1:g.48942760_48942764del	GRCh37
NC_000013.9:g.47840761_47840765del	NCBI36
NG_009009.1:g.69878_69882del , LRG_517:g.69878_69882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1127+20_1127+24del MANE Select	ENSP00000267163.4:n.1127+20_1127+24del
ENST00000650461.1:c.1127+20_1127+24del	ENSP00000497193.1:n.1127+20_1127+24del
ENST00000267163.4:c.1127+20_1127+24del	ENSP00000267163.4:n.1127+20_1127+24del
NM_000321.2:c.1127+20_1127+24del , LRG_517t1:c.1127+20_1127+24del	NP_000312.2:n.1127+20_1127+24del
XM_011535171.1:c.866+20_866+24del	XP_011533473.1:n.866+20_866+24del
XM_011535171.2:c.866+20_866+24del	XP_011533473.1:n.866+20_866+24del
XR_002957522.1:n.122-3650_122-3646del
NM_000321.3:c.1127+20_1127+24del MANE Select	NP_000312.2:n.1127+20_1127+24del