Canonical Allele Identifier: CA2089972649

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381456_48381460delinsATAAT , CM000675.2:g.48381456_48381460delinsATAAT	GRCh38
NC_000013.10:g.48955592_48955596delinsATAAT , CM000675.1:g.48955592_48955596delinsATAAT	GRCh37
NC_000013.9:g.47853593_47853597delinsATAAT	NCBI36
NG_009009.1:g.82710_82714delinsATAAT , LRG_517:g.82710_82714delinsATAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+13_1695+17delinsATAAT MANE Select	ENSP00000267163.4:n.1695+13_1695+17delinsATAAT
ENST00000643064.1:c.194+13_194+17delinsATAAT
ENST00000650461.1:c.1695+13_1695+17delinsATAAT	ENSP00000497193.1:n.1695+13_1695+17delinsATAAT
ENST00000267163.4:c.1695+13_1695+17delinsATAAT	ENSP00000267163.4:n.1695+13_1695+17delinsATAAT
NM_000321.2:c.1695+13_1695+17delinsATAAT , LRG_517t1:c.1695+13_1695+17delinsATAAT	NP_000312.2:n.1695+13_1695+17delinsATAAT
XM_011535171.1:c.1434+13_1434+17delinsATAAT	XP_011533473.1:n.1434+13_1434+17delinsATAAT
XM_011535171.2:c.1434+13_1434+17delinsATAAT	XP_011533473.1:n.1434+13_1434+17delinsATAAT
NM_000321.3:c.1695+13_1695+17delinsATAAT MANE Select	NP_000312.2:n.1695+13_1695+17delinsATAAT