Canonical Allele Identifier: CA2799117971
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348855_48348858dup , CM000675.2:g.48348855_48348858dup GRCh38
NC_000013.10:g.48922991_48922994dup , CM000675.1:g.48922991_48922994dup GRCh37
NC_000013.9:g.47820992_47820995dup NCBI36
NG_009009.1:g.50109_50112dup , LRG_517:g.50109_50112dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-101_540-98dup MANE Select ENSP00000267163.4:n.540-101_540-98dup
ENST00000650461.1:c.540-101_540-98dup ENSP00000497193.1:n.540-101_540-98dup
ENST00000267163.4:c.540-101_540-98dup ENSP00000267163.4:n.540-101_540-98dup
ENST00000467505.5:c.138-11162_138-11159dup ENSP00000434702.1:n.138-11162_138-11159dup
ENST00000525036.1:n.702-101_702-98dup
NM_000321.2:c.540-101_540-98dup , LRG_517t1:c.540-101_540-98dup NP_000312.2:n.540-101_540-98dup
XM_011535171.1:c.279-101_279-98dup XP_011533473.1:n.279-101_279-98dup
XM_011535171.2:c.279-101_279-98dup XP_011533473.1:n.279-101_279-98dup
NM_000321.3:c.540-101_540-98dup MANE Select NP_000312.2:n.540-101_540-98dup