Canonical Allele Identifier: CA2622981522

Gene: RB1

Linked Data

• gnomAD v4: 13-48381227-C-CTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381237_48381238insTTTTTTTTTTTTTTT , CM000675.2:g.48381237_48381238insTTTTTTTTTTTTTTT	GRCh38
NC_000013.10:g.48955373_48955374insTTTTTTTTTTTTTTT , CM000675.1:g.48955373_48955374insTTTTTTTTTTTTTTT	GRCh37
NC_000013.9:g.47853374_47853375insTTTTTTTTTTTTTTT	NCBI36
NG_009009.1:g.82491_82492insTTTTTTTTTTTTTTT , LRG_517:g.82491_82492insTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1499-10_1499-9insTTTTTTTTTTTTTTT MANE Select	ENSP00000267163.4:n.1499-10_1499-9insTTTTTTTTTTTTTTT
ENST00000650461.1:c.1499-10_1499-9insTTTTTTTTTTTTTTT	ENSP00000497193.1:n.1499-10_1499-9insTTTTTTTTTTTTTTT
ENST00000267163.4:c.1499-10_1499-9insTTTTTTTTTTTTTTT	ENSP00000267163.4:n.1499-10_1499-9insTTTTTTTTTTTTTTT
NM_000321.2:c.1499-10_1499-9insTTTTTTTTTTTTTTT , LRG_517t1:c.1499-10_1499-9insTTTTTTTTTTTTTTT	NP_000312.2:n.1499-10_1499-9insTTTTTTTTTTTTTTT
XM_011535171.1:c.1238-10_1238-9insTTTTTTTTTTTTTTT	XP_011533473.1:n.1238-10_1238-9insTTTTTTTTTTTTTTT
XM_011535171.2:c.1238-10_1238-9insTTTTTTTTTTTTTTT	XP_011533473.1:n.1238-10_1238-9insTTTTTTTTTTTTTTT
NM_000321.3:c.1499-10_1499-9insTTTTTTTTTTTTTTT MANE Select	NP_000312.2:n.1499-10_1499-9insTTTTTTTTTTTTTTT