Canonical Allele Identifier: CA2089971257

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380195_48380199delinsGTCTT , CM000675.2:g.48380195_48380199delinsGTCTT	GRCh38
NC_000013.10:g.48954331_48954335delinsGTCTT , CM000675.1:g.48954331_48954335delinsGTCTT	GRCh37
NC_000013.9:g.47852332_47852336delinsGTCTT	NCBI36
NG_009009.1:g.81449_81453delinsGTCTT , LRG_517:g.81449_81453delinsGTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1452_1456delinsGTCTT MANE Select	ENSP00000267163.4:p.Met484=
ENST00000650461.1:c.1452_1456delinsGTCTT	ENSP00000497193.1:p.Met484=
ENST00000267163.4:c.1452_1456delinsGTCTT	ENSP00000267163.4:p.Met484=
NM_000321.2:c.1452_1456delinsGTCTT , LRG_517t1:c.1452_1456delinsGTCTT	NP_000312.2:p.Met484=
XM_011535171.1:c.1191_1195delinsGTCTT	XP_011533473.1:p.Met397=
XM_011535171.2:c.1191_1195delinsGTCTT	XP_011533473.1:p.Met397=
NM_000321.3:c.1452_1456delinsGTCTT MANE Select	NP_000312.2:p.Met484=