Canonical Allele Identifier: CA2728027360
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138142505

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380127_48380143del , CM000675.2:g.48380127_48380143del GRCh38
NC_000013.10:g.48954263_48954279del , CM000675.1:g.48954263_48954279del GRCh37
NC_000013.9:g.47852264_47852280del NCBI36
NG_009009.1:g.81381_81397del , LRG_517:g.81381_81397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1422-38_1422-22del MANE Select ENSP00000267163.4:n.1422-38_1422-22del
ENST00000650461.1:c.1422-38_1422-22del ENSP00000497193.1:n.1422-38_1422-22del
ENST00000267163.4:c.1422-38_1422-22del ENSP00000267163.4:n.1422-38_1422-22del
NM_000321.2:c.1422-38_1422-22del , LRG_517t1:c.1422-38_1422-22del NP_000312.2:n.1422-38_1422-22del
XM_011535171.1:c.1161-38_1161-22del XP_011533473.1:n.1161-38_1161-22del
XM_011535171.2:c.1161-38_1161-22del XP_011533473.1:n.1161-38_1161-22del
NM_000321.3:c.1422-38_1422-22del MANE Select NP_000312.2:n.1422-38_1422-22del