Canonical Allele Identifier: CA2580060393

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459774del , CM000675.2:g.48459774del	GRCh38
NC_000013.10:g.49033910del , CM000675.1:g.49033910del	GRCh37
NC_000013.9:g.47931911del	NCBI36
NG_009009.1:g.161028del , LRG_517:g.161028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2047del MANE Select	ENSP00000267163.4:p.Leu683PhefsTer13
ENST00000643064.1:c.194+78331del
ENST00000650461.1:c.2047del	ENSP00000497193.1:p.Leu683PhefsTer13
ENST00000267163.4:c.2047del	ENSP00000267163.4:p.Leu683PhefsTer13
NM_000321.2:c.2047del , LRG_517t1:c.2047del	NP_000312.2:p.Leu683PhefsTer13
XM_011535171.1:c.1786del	XP_011533473.1:p.Leu596PhefsTer13
XM_011535171.2:c.1786del	XP_011533473.1:p.Leu596PhefsTer13
NM_000321.3:c.2047del MANE Select	NP_000312.2:p.Leu683PhefsTer13