Canonical Allele Identifier: CA2831039874

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381284del , CM000675.2:g.48381284del	GRCh38
NC_000013.10:g.48955420del , CM000675.1:g.48955420del	GRCh37
NC_000013.9:g.47853421del	NCBI36
NG_009009.1:g.82538del , LRG_517:g.82538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1536del MANE Select	ENSP00000267163.4:p.Leu512PhefsTer7
ENST00000643064.1:c.35del
ENST00000650461.1:c.1536del	ENSP00000497193.1:p.Leu512PhefsTer7
ENST00000267163.4:c.1536del	ENSP00000267163.4:p.Leu512PhefsTer7
NM_000321.2:c.1536del , LRG_517t1:c.1536del	NP_000312.2:p.Leu512PhefsTer7
XM_011535171.1:c.1275del	XP_011533473.1:p.Leu425PhefsTer7
XM_011535171.2:c.1275del	XP_011533473.1:p.Leu425PhefsTer7
NM_000321.3:c.1536del MANE Select	NP_000312.2:p.Leu512PhefsTer7