Canonical Allele Identifier: CA6978900

Gene: RB1 LPAR6

Linked Data

• dbSNP Id: rs753592134
• ExAC: 13:48985838 CAG / C
• gnomAD v2: 13-48985838-CAG-C
• MyVariant Identifiers: chr13:g.48985839_48985840del (hg19) ; chr13:g.48411703_48411704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48411704_48411705del , CM000675.2:g.48411704_48411705del	GRCh38
NC_000013.10:g.48985840_48985841del , CM000675.1:g.48985840_48985841del	GRCh37
NC_000013.9:g.47883841_47883842del	NCBI36
NG_009009.1:g.112958_112959del , LRG_517:g.112958_112959del
NG_012874.1:g.38001_38002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30261_1695+30262del (RB1) MANE Select	ENSP00000267163.4:n.1695+30261_1695+30262del
ENST00000620633.5:c.720_721del (LPAR6) MANE Select	ENSP00000482660.1:p.Phe240LeufsTer22
ENST00000643064.1:c.194+30261_194+30262del (RB1)
ENST00000650461.1:c.1695+30261_1695+30262del (RB1)	ENSP00000497193.1:n.1695+30261_1695+30262del
ENST00000267163.4:c.1695+30261_1695+30262del (RB1)	ENSP00000267163.4:n.1695+30261_1695+30262del
ENST00000345941.2:c.720_721del (LPAR6)	ENSP00000344353.2:p.Phe240LeufsTer22
ENST00000378434.8:c.720_721del (LPAR6)	ENSP00000367691.3:p.Phe240LeufsTer22
ENST00000462781.5:n.114+3996_114+3997del (LPAR6)
ENST00000465365.6:n.1069-2937_1069-2936del (LPAR6)
ENST00000470937.1:n.117+3996_117+3997del (LPAR6)
ENST00000620633.4:c.720_721del (LPAR6)	ENSP00000482660.1:p.Phe240LeufsTer22
NM_000321.2:c.1695+30261_1695+30262del , LRG_517t1:c.1695+30261_1695+30262del (RB1)	NP_000312.2:n.1695+30261_1695+30262del
NM_001162497.1:c.720_721del (LPAR6)	NP_001155969.1:p.Phe240LeufsTer22
NM_001162498.1:c.720_721del (LPAR6)	NP_001155970.1:p.Phe240LeufsTer22
NM_005767.5:c.720_721del (LPAR6)	NP_005758.2:p.Phe240LeufsTer22
XM_011535171.1:c.1434+30261_1434+30262del (RB1)	XP_011533473.1:n.1434+30261_1434+30262del
XM_011535171.2:c.1434+30261_1434+30262del (RB1)	XP_011533473.1:n.1434+30261_1434+30262del
XM_024449302.1:c.720_721del (LPAR6)	XP_024305070.1:p.Phe240LeufsTer22
XM_024449303.1:c.192+3996_192+3997del (LPAR6)	XP_024305071.1:n.192+3996_192+3997del
XM_024449304.1:c.192+3996_192+3997del (LPAR6)	XP_024305072.1:n.192+3996_192+3997del
NM_001162497.2:c.720_721del (LPAR6)	NP_001155969.1:p.Phe240LeufsTer22
NM_001162498.2:c.720_721del (LPAR6)	NP_001155970.1:p.Phe240LeufsTer22
NM_001377316.1:c.720_721del (LPAR6)	NP_001364245.1:p.Phe240LeufsTer22
NM_001377317.1:c.720_721del (LPAR6)	NP_001364246.1:p.Phe240LeufsTer22
NM_005767.6:c.720_721del (LPAR6)	NP_005758.2:p.Phe240LeufsTer22
NM_000321.3:c.1695+30261_1695+30262del (RB1) MANE Select	NP_000312.2:n.1695+30261_1695+30262del
NM_001162497.3:c.720_721del (LPAR6)	NP_001155969.1:p.Phe240LeufsTer22
NM_001162498.3:c.720_721del (LPAR6) MANE Select	NP_001155970.1:p.Phe240LeufsTer22
NM_001377316.2:c.720_721del (LPAR6)	NP_001364245.1:p.Phe240LeufsTer22
NM_001377317.2:c.720_721del (LPAR6)	NP_001364246.1:p.Phe240LeufsTer22
NM_005767.7:c.720_721del (LPAR6)	NP_005758.2:p.Phe240LeufsTer22