Canonical Allele Identifier: CA028585

Gene: RB1

Linked Data

• dbSNP Id: rs1948518474
• gnomAD v3: 13-48380019-ACTT-A
• gnomAD v4: 13-48380019-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380023_48380025del , CM000675.2:g.48380023_48380025del	GRCh38
NC_000013.10:g.48954159_48954161del , CM000675.1:g.48954159_48954161del	GRCh37
NC_000013.9:g.47852160_47852162del	NCBI36
NG_009009.1:g.81277_81279del , LRG_517:g.81277_81279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1390-30_1390-28del MANE Select	ENSP00000267163.4:n.1390-30_1390-28del
ENST00000650461.1:c.1390-30_1390-28del	ENSP00000497193.1:n.1390-30_1390-28del
ENST00000267163.4:c.1390-30_1390-28del	ENSP00000267163.4:n.1390-30_1390-28del
NM_000321.2:c.1390-30_1390-28del , LRG_517t1:c.1390-30_1390-28del	NP_000312.2:n.1390-30_1390-28del
XM_011535171.1:c.1129-30_1129-28del	XP_011533473.1:n.1129-30_1129-28del
XM_011535171.2:c.1129-30_1129-28del	XP_011533473.1:n.1129-30_1129-28del
NM_000321.3:c.1390-30_1390-28del MANE Select	NP_000312.2:n.1390-30_1390-28del