Canonical Allele Identifier: CA2090008114

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459781_48459782delinsAG , CM000675.2:g.48459781_48459782delinsAG	GRCh38
NC_000013.10:g.49033917_49033918delinsAG , CM000675.1:g.49033917_49033918delinsAG	GRCh37
NC_000013.9:g.47931918_47931919delinsAG	NCBI36
NG_009009.1:g.161035_161036delinsAG , LRG_517:g.161035_161036delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2054_2055delinsAG MANE Select	ENSP00000267163.4:p.Gln685=
ENST00000643064.1:c.194+78338_194+78339delinsAG
ENST00000650461.1:c.2054_2055delinsAG	ENSP00000497193.1:p.Gln685=
ENST00000267163.4:c.2054_2055delinsAG	ENSP00000267163.4:p.Gln685=
NM_000321.2:c.2054_2055delinsAG , LRG_517t1:c.2054_2055delinsAG	NP_000312.2:p.Gln685=
XM_011535171.1:c.1793_1794delinsAG	XP_011533473.1:p.Gln598=
XM_011535171.2:c.1793_1794delinsAG	XP_011533473.1:p.Gln598=
NM_000321.3:c.2054_2055delinsAG MANE Select	NP_000312.2:p.Gln685=