Canonical Allele Identifier: CA2695218645

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459766_48459781dup , CM000675.2:g.48459766_48459781dup	GRCh38
NC_000013.10:g.49033902_49033917dup , CM000675.1:g.49033902_49033917dup	GRCh37
NC_000013.9:g.47931903_47931918dup	NCBI36
NG_009009.1:g.161020_161035dup , LRG_517:g.161020_161035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2039_2054dup MANE Select	ENSP00000267163.4:p.Gln685HisfsTer12
ENST00000643064.1:c.194+78323_194+78338dup
ENST00000650461.1:c.2039_2054dup	ENSP00000497193.1:p.Gln685HisfsTer12
ENST00000267163.4:c.2039_2054dup	ENSP00000267163.4:p.Gln685HisfsTer12
NM_000321.2:c.2039_2054dup , LRG_517t1:c.2039_2054dup	NP_000312.2:p.Gln685HisfsTer12
XM_011535171.1:c.1778_1793dup	XP_011533473.1:p.Gln598HisfsTer12
XM_011535171.2:c.1778_1793dup	XP_011533473.1:p.Gln598HisfsTer12
NM_000321.3:c.2039_2054dup MANE Select	NP_000312.2:p.Gln685HisfsTer12