Canonical Allele Identifier: CA2090019402
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459562_48459563delinsGA , CM000675.2:g.48459562_48459563delinsGA GRCh38
NC_000013.10:g.49033698_49033699delinsGA , CM000675.1:g.49033698_49033699delinsGA GRCh37
NC_000013.9:g.47931699_47931700delinsGA NCBI36
NG_009009.1:g.160816_160817delinsGA , LRG_517:g.160816_160817delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-126_1961-125delinsGA MANE Select ENSP00000267163.4:n.1961-126_1961-125delinsGA
ENST00000643064.1:c.194+78119_194+78120delinsGA
ENST00000650461.1:c.1961-126_1961-125delinsGA ENSP00000497193.1:n.1961-126_1961-125delinsGA
ENST00000267163.4:c.1961-126_1961-125delinsGA ENSP00000267163.4:n.1961-126_1961-125delinsGA
NM_000321.2:c.1961-126_1961-125delinsGA , LRG_517t1:c.1961-126_1961-125delinsGA NP_000312.2:n.1961-126_1961-125delinsGA
XM_011535171.1:c.1700-126_1700-125delinsGA XP_011533473.1:n.1700-126_1700-125delinsGA
XM_011535171.2:c.1700-126_1700-125delinsGA XP_011533473.1:n.1700-126_1700-125delinsGA
NM_000321.3:c.1961-126_1961-125delinsGA MANE Select NP_000312.2:n.1961-126_1961-125delinsGA