Canonical Allele Identifier: CA955785468
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459625_48459631dup , CM000675.2:g.48459625_48459631dup GRCh38
NC_000013.10:g.49033761_49033767dup , CM000675.1:g.49033761_49033767dup GRCh37
NC_000013.9:g.47931762_47931768dup NCBI36
NG_009009.1:g.160879_160885dup , LRG_517:g.160879_160885dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-63_1961-57dup MANE Select ENSP00000267163.4:n.1961-63_1961-57dup
ENST00000643064.1:c.194+78182_194+78188dup
ENST00000650461.1:c.1961-63_1961-57dup ENSP00000497193.1:n.1961-63_1961-57dup
ENST00000267163.4:c.1961-63_1961-57dup ENSP00000267163.4:n.1961-63_1961-57dup
NM_000321.2:c.1961-63_1961-57dup , LRG_517t1:c.1961-63_1961-57dup NP_000312.2:n.1961-63_1961-57dup
XM_011535171.1:c.1700-63_1700-57dup XP_011533473.1:n.1700-63_1700-57dup
XM_011535171.2:c.1700-63_1700-57dup XP_011533473.1:n.1700-63_1700-57dup
NM_000321.3:c.1961-63_1961-57dup MANE Select NP_000312.2:n.1961-63_1961-57dup