Canonical Allele Identifier: CA2580087606

Gene: RB1

Linked Data

• ClinVar Variation Id: 1785436
• ClinVar RCV Id: RCV002422185

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459801_48459814del , CM000675.2:g.48459801_48459814del	GRCh38
NC_000013.10:g.49033937_49033950del , CM000675.1:g.49033937_49033950del	GRCh37
NC_000013.9:g.47931938_47931951del	NCBI36
NG_009009.1:g.161055_161068del , LRG_517:g.161055_161068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2074_2087del MANE Select	ENSP00000267163.4:p.Tyr692ArgfsTer24
ENST00000643064.1:c.194+78358_194+78371del
ENST00000650461.1:c.2074_2087del	ENSP00000497193.1:p.Tyr692ArgfsTer24
ENST00000267163.4:c.2074_2087del	ENSP00000267163.4:p.Tyr692ArgfsTer24
NM_000321.2:c.2074_2087del , LRG_517t1:c.2074_2087del	NP_000312.2:p.Tyr692ArgfsTer24
XM_011535171.1:c.1813_1826del	XP_011533473.1:p.Tyr605ArgfsTer24
XM_011535171.2:c.1813_1826del	XP_011533473.1:p.Tyr605ArgfsTer24
NM_000321.3:c.2074_2087del MANE Select	NP_000312.2:p.Tyr692ArgfsTer24