Canonical Allele Identifier: CA2553717066

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381360_48381361insAAAA , CM000675.2:g.48381360_48381361insAAAA	GRCh38
NC_000013.10:g.48955496_48955497insAAAA , CM000675.1:g.48955496_48955497insAAAA	GRCh37
NC_000013.9:g.47853497_47853498insAAAA	NCBI36
NG_009009.1:g.82614_82615insAAAA , LRG_517:g.82614_82615insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1612_1613insAAAA MANE Select	ENSP00000267163.4:p.Ala538GlufsTer18
ENST00000643064.1:c.111_112insAAAA
ENST00000650461.1:c.1612_1613insAAAA	ENSP00000497193.1:p.Ala538GlufsTer18
ENST00000267163.4:c.1612_1613insAAAA	ENSP00000267163.4:p.Ala538GlufsTer18
NM_000321.2:c.1612_1613insAAAA , LRG_517t1:c.1612_1613insAAAA	NP_000312.2:p.Ala538GlufsTer18
XM_011535171.1:c.1351_1352insAAAA	XP_011533473.1:p.Ala451GlufsTer18
XM_011535171.2:c.1351_1352insAAAA	XP_011533473.1:p.Ala451GlufsTer18
NM_000321.3:c.1612_1613insAAAA MANE Select	NP_000312.2:p.Ala538GlufsTer18