Canonical Allele Identifier: CA2799117966
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348698_48348699insTTTTT , CM000675.2:g.48348698_48348699insTTTTT GRCh38
NC_000013.10:g.48922834_48922835insTTTTT , CM000675.1:g.48922834_48922835insTTTTT GRCh37
NC_000013.9:g.47820835_47820836insTTTTT NCBI36
NG_009009.1:g.49952_49953insTTTTT , LRG_517:g.49952_49953insTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-258_540-257insTTTTT MANE Select ENSP00000267163.4:n.540-258_540-257insTTTTT
ENST00000650461.1:c.540-258_540-257insTTTTT ENSP00000497193.1:n.540-258_540-257insTTTTT
ENST00000267163.4:c.540-258_540-257insTTTTT ENSP00000267163.4:n.540-258_540-257insTTTTT
ENST00000467505.5:c.138-11319_138-11318insTTTTT ENSP00000434702.1:n.138-11319_138-11318insTTTTT
ENST00000525036.1:n.702-258_702-257insTTTTT
NM_000321.2:c.540-258_540-257insTTTTT , LRG_517t1:c.540-258_540-257insTTTTT NP_000312.2:n.540-258_540-257insTTTTT
XM_011535171.1:c.279-258_279-257insTTTTT XP_011533473.1:n.279-258_279-257insTTTTT
XM_011535171.2:c.279-258_279-257insTTTTT XP_011533473.1:n.279-258_279-257insTTTTT
NM_000321.3:c.540-258_540-257insTTTTT MANE Select NP_000312.2:n.540-258_540-257insTTTTT