Canonical Allele Identifier: CA2831039870
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381244_48381247del , CM000675.2:g.48381244_48381247del GRCh38
NC_000013.10:g.48955380_48955383del , CM000675.1:g.48955380_48955383del GRCh37
NC_000013.9:g.47853381_47853384del NCBI36
NG_009009.1:g.82498_82501del , LRG_517:g.82498_82501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1499-3_1499del
ENST00000650461.1:c.1499-3_1499del
ENST00000267163.4:c.1499-3_1499del
NM_000321.2:c.1499-3_1499del , LRG_517t1:c.1499-3_1499del
XM_011535171.1:c.1238-3_1238del
XM_011535171.2:c.1238-3_1238del
NM_000321.3:c.1499-3_1499del