Canonical Allele Identifier: CA2090019449
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459645_48459646delinsCA , CM000675.2:g.48459645_48459646delinsCA GRCh38
NC_000013.10:g.49033781_49033782delinsCA , CM000675.1:g.49033781_49033782delinsCA GRCh37
NC_000013.9:g.47931782_47931783delinsCA NCBI36
NG_009009.1:g.160899_160900delinsCA , LRG_517:g.160899_160900delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-43_1961-42delinsCA MANE Select ENSP00000267163.4:n.1961-43_1961-42delinsCA
ENST00000643064.1:c.194+78202_194+78203delinsCA
ENST00000650461.1:c.1961-43_1961-42delinsCA ENSP00000497193.1:n.1961-43_1961-42delinsCA
ENST00000267163.4:c.1961-43_1961-42delinsCA ENSP00000267163.4:n.1961-43_1961-42delinsCA
NM_000321.2:c.1961-43_1961-42delinsCA , LRG_517t1:c.1961-43_1961-42delinsCA NP_000312.2:n.1961-43_1961-42delinsCA
XM_011535171.1:c.1700-43_1700-42delinsCA XP_011533473.1:n.1700-43_1700-42delinsCA
XM_011535171.2:c.1700-43_1700-42delinsCA XP_011533473.1:n.1700-43_1700-42delinsCA
NM_000321.3:c.1961-43_1961-42delinsCA MANE Select NP_000312.2:n.1961-43_1961-42delinsCA