Canonical Allele Identifier: CA609929341

Gene: RB1

Linked Data

• dbSNP Id: rs1593456922
• gnomAD v2: 13-48955375-A-ATTTTTT
• MyVariant Identifiers: chr13:g.48955375_48955376insTTTTTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381244_48381245insTTTTTT , CM000675.2:g.48381244_48381245insTTTTTT	GRCh38
NC_000013.10:g.48955380_48955381insTTTTTT , CM000675.1:g.48955380_48955381insTTTTTT	GRCh37
NC_000013.9:g.47853381_47853382insTTTTTT	NCBI36
NG_009009.1:g.82498_82499insTTTTTT , LRG_517:g.82498_82499insTTTTTT

Transcript Alleles

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