Canonical Allele Identifier: CA1139663289

Gene: RB1

Linked Data

• ClinVar Variation Id: 995861
• ClinVar RCV Id: RCV001290129
• dbSNP Id: rs1949384403

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459762_48459765dup , CM000675.2:g.48459762_48459765dup	GRCh38
NC_000013.10:g.49033898_49033901dup , CM000675.1:g.49033898_49033901dup	GRCh37
NC_000013.9:g.47931899_47931902dup	NCBI36
NG_009009.1:g.161016_161019dup , LRG_517:g.161016_161019dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2035_2038dup MANE Select	ENSP00000267163.4:p.Ile680AsnfsTer13
ENST00000643064.1:c.194+78319_194+78322dup
ENST00000650461.1:c.2035_2038dup	ENSP00000497193.1:p.Ile680AsnfsTer13
ENST00000267163.4:c.2035_2038dup	ENSP00000267163.4:p.Ile680AsnfsTer13
NM_000321.2:c.2035_2038dup , LRG_517t1:c.2035_2038dup	NP_000312.2:p.Ile680AsnfsTer13
XM_011535171.1:c.1774_1777dup	XP_011533473.1:p.Ile593AsnfsTer13
XM_011535171.2:c.1774_1777dup	XP_011533473.1:p.Ile593AsnfsTer13
NM_000321.3:c.2035_2038dup MANE Select	NP_000312.2:p.Ile680AsnfsTer13