Canonical Allele Identifier: CA2090019280
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459383_48459384delinsGC , CM000675.2:g.48459383_48459384delinsGC GRCh38
NC_000013.10:g.49033519_49033520delinsGC , CM000675.1:g.49033519_49033520delinsGC GRCh37
NC_000013.9:g.47931520_47931521delinsGC NCBI36
NG_009009.1:g.160637_160638delinsGC , LRG_517:g.160637_160638delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-305_1961-304delinsGC MANE Select ENSP00000267163.4:n.1961-305_1961-304delinsGC
ENST00000643064.1:c.194+77940_194+77941delinsGC
ENST00000650461.1:c.1961-305_1961-304delinsGC ENSP00000497193.1:n.1961-305_1961-304delinsGC
ENST00000267163.4:c.1961-305_1961-304delinsGC ENSP00000267163.4:n.1961-305_1961-304delinsGC
NM_000321.2:c.1961-305_1961-304delinsGC , LRG_517t1:c.1961-305_1961-304delinsGC NP_000312.2:n.1961-305_1961-304delinsGC
XM_011535171.1:c.1700-305_1700-304delinsGC XP_011533473.1:n.1700-305_1700-304delinsGC
XM_011535171.2:c.1700-305_1700-304delinsGC XP_011533473.1:n.1700-305_1700-304delinsGC
NM_000321.3:c.1961-305_1961-304delinsGC MANE Select NP_000312.2:n.1961-305_1961-304delinsGC