Canonical Allele Identifier: CA2622986150

Gene: RB1

Linked Data

• gnomAD v4: 13-48476865-TTTCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476866_48476870del , CM000675.2:g.48476866_48476870del	GRCh38
NC_000013.10:g.49051002_49051006del , CM000675.1:g.49051002_49051006del	GRCh37
NC_000013.9:g.47949003_47949007del	NCBI36
NG_009009.1:g.178120_178124del , LRG_517:g.178120_178124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+23_2663+27del MANE Select	ENSP00000267163.4:n.2663+23_2663+27del
ENST00000643064.1:c.194+95423_194+95427del
ENST00000650461.1:c.2663+23_2663+27del	ENSP00000497193.1:n.2663+23_2663+27del
ENST00000267163.4:c.2663+23_2663+27del	ENSP00000267163.4:n.2663+23_2663+27del
ENST00000484879.1:n.397+23_397+27del
ENST00000531171.5:n.266+23_266+27del
NM_000321.2:c.2663+23_2663+27del , LRG_517t1:c.2663+23_2663+27del	NP_000312.2:n.2663+23_2663+27del
XM_011535171.1:c.2402+23_2402+27del	XP_011533473.1:n.2402+23_2402+27del
XM_011535171.2:c.2402+23_2402+27del	XP_011533473.1:n.2402+23_2402+27del
NM_000321.3:c.2663+23_2663+27del MANE Select	NP_000312.2:n.2663+23_2663+27del