Canonical Allele Identifier: CA2575413208
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48342517-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342517A>G , CM000675.2:g.48342517A>G GRCh38
NC_000013.10:g.48916653A>G , CM000675.1:g.48916653A>G GRCh37
NC_000013.9:g.47814654A>G NCBI36
NG_009009.1:g.43771A>G , LRG_517:g.43771A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.265-82A>G MANE Select ENSP00000267163.4:n.265-82A>G
ENST00000650461.1:c.265-82A>G ENSP00000497193.1:n.265-82A>G
ENST00000267163.4:c.265-82A>G ENSP00000267163.4:n.265-82A>G
ENST00000467505.5:c.138-17500A>G ENSP00000434702.1:n.138-17500A>G
ENST00000525036.1:n.427-82A>G
NM_000321.2:c.265-82A>G , LRG_517t1:c.265-82A>G NP_000312.2:n.265-82A>G
XM_011535171.1:c.4-82A>G XP_011533473.1:n.4-82A>G
XM_011535171.2:c.4-82A>G XP_011533473.1:n.4-82A>G
NM_000321.3:c.265-82A>G MANE Select NP_000312.2:n.265-82A>G
Search 100 bp 5'
Search 100 bp 3'