Canonical Allele Identifier: CA2839351308
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48365023_48365024insT , CM000675.2:g.48365023_48365024insT GRCh38
NC_000013.10:g.48939159_48939160insT , CM000675.1:g.48939159_48939160insT GRCh37
NC_000013.9:g.47837160_47837161insT NCBI36
NG_009009.1:g.66277_66278insT , LRG_517:g.66277_66278insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.939+52_939+53insT MANE Select ENSP00000267163.4:n.939+52_939+53insT
ENST00000650461.1:c.939+52_939+53insT ENSP00000497193.1:n.939+52_939+53insT
ENST00000267163.4:c.939+52_939+53insT ENSP00000267163.4:n.939+52_939+53insT
NM_000321.2:c.939+52_939+53insT , LRG_517t1:c.939+52_939+53insT NP_000312.2:n.939+52_939+53insT
XM_011535171.1:c.678+52_678+53insT XP_011533473.1:n.678+52_678+53insT
XM_011535171.2:c.678+52_678+53insT XP_011533473.1:n.678+52_678+53insT
XR_002957522.1:n.122-48_122-47insA
NM_000321.3:c.939+52_939+53insT MANE Select NP_000312.2:n.939+52_939+53insT