Canonical Allele Identifier: CA2831039873

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381283dup , CM000675.2:g.48381283dup	GRCh38
NC_000013.10:g.48955419dup , CM000675.1:g.48955419dup	GRCh37
NC_000013.9:g.47853420dup	NCBI36
NG_009009.1:g.82537dup , LRG_517:g.82537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1535dup MANE Select	ENSP00000267163.4:p.Leu512PhefsTer11
ENST00000643064.1:c.34dup
ENST00000650461.1:c.1535dup	ENSP00000497193.1:p.Leu512PhefsTer11
ENST00000267163.4:c.1535dup	ENSP00000267163.4:p.Leu512PhefsTer11
NM_000321.2:c.1535dup , LRG_517t1:c.1535dup	NP_000312.2:p.Leu512PhefsTer11
XM_011535171.1:c.1274dup	XP_011533473.1:p.Leu425PhefsTer11
XM_011535171.2:c.1274dup	XP_011533473.1:p.Leu425PhefsTer11
NM_000321.3:c.1535dup MANE Select	NP_000312.2:p.Leu512PhefsTer11