Canonical Allele Identifier: CA609929411

Gene: RB1 LPAR6

Linked Data

• dbSNP Id: rs1163127792
• gnomAD v2: 13-48986006-ACAATC-A
• gnomAD v4: 13-48411870-ACAATC-A
• MyVariant Identifiers: chr13:g.48986007_48986011del (hg19) ; chr13:g.48411871_48411875del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48411872_48411876del , CM000675.2:g.48411872_48411876del	GRCh38
NC_000013.10:g.48986008_48986012del , CM000675.1:g.48986008_48986012del	GRCh37
NC_000013.9:g.47884009_47884013del	NCBI36
NG_009009.1:g.113126_113130del , LRG_517:g.113126_113130del
NG_012874.1:g.37830_37834del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1695+30429_1695+30433del (RB1) MANE Select	ENSP00000267163.4:n.1695+30429_1695+30433...
ENST00000620633.5:c.549_553del (LPAR6) MANE Select	ENSP00000482660.1:p.Arg183SerfsTer21
ENST00000643064.1:c.194+30429_194+30433del (RB1)
ENST00000650461.1:c.1695+30429_1695+30433del (RB1)	ENSP00000497193.1:n.1695+30429_1695+30433...
ENST00000267163.4:c.1695+30429_1695+30433del (RB1)	ENSP00000267163.4:n.1695+30429_1695+30433...
ENST00000345941.2:c.549_553del (LPAR6)	ENSP00000344353.2:p.Arg183SerfsTer21
ENST00000378434.8:c.549_553del (LPAR6)	ENSP00000367691.3:p.Arg183SerfsTer21
ENST00000462781.5:n.114+3825_114+3829del (LPAR6)
ENST00000465365.6:n.1069-3108_1069-3104del (LPAR6)
ENST00000470937.1:n.117+3825_117+3829del (LPAR6)
ENST00000482024.1:n.400_404del (LPAR6)
ENST00000620633.4:c.549_553del (LPAR6)	ENSP00000482660.1:p.Arg183SerfsTer21
NM_000321.2:c.1695+30429_1695+30433del , LRG_517t1:c.1695+30429_1695+30433del (RB1)	NP_000312.2:n.1695+30429_1695+30433del
NM_001162497.1:c.549_553del (LPAR6)	NP_001155969.1:p.Arg183SerfsTer21
NM_001162498.1:c.549_553del (LPAR6)	NP_001155970.1:p.Arg183SerfsTer21
NM_005767.5:c.549_553del (LPAR6)	NP_005758.2:p.Arg183SerfsTer21
XM_011535171.1:c.1434+30429_1434+30433del (RB1)	XP_011533473.1:n.1434+30429_1434+30433del...
XM_011535171.2:c.1434+30429_1434+30433del (RB1)	XP_011533473.1:n.1434+30429_1434+30433del...
XM_024449302.1:c.549_553del (LPAR6)	XP_024305070.1:p.Arg183SerfsTer21
XM_024449303.1:c.192+3825_192+3829del (LPAR6)	XP_024305071.1:n.192+3825_192+3829del
XM_024449304.1:c.192+3825_192+3829del (LPAR6)	XP_024305072.1:n.192+3825_192+3829del
NM_001162497.2:c.549_553del (LPAR6)	NP_001155969.1:p.Arg183SerfsTer21
NM_001162498.2:c.549_553del (LPAR6)	NP_001155970.1:p.Arg183SerfsTer21
NM_001377316.1:c.549_553del (LPAR6)	NP_001364245.1:p.Arg183SerfsTer21
NM_001377317.1:c.549_553del (LPAR6)	NP_001364246.1:p.Arg183SerfsTer21
NM_005767.6:c.549_553del (LPAR6)	NP_005758.2:p.Arg183SerfsTer21
NM_000321.3:c.1695+30429_1695+30433del (RB1) MANE Select	NP_000312.2:n.1695+30429_1695+30433del
NM_001162497.3:c.549_553del (LPAR6)	NP_001155969.1:p.Arg183SerfsTer21
NM_001162498.3:c.549_553del (LPAR6) MANE Select	NP_001155970.1:p.Arg183SerfsTer21
NM_001377316.2:c.549_553del (LPAR6)	NP_001364245.1:p.Arg183SerfsTer21
NM_001377317.2:c.549_553del (LPAR6)	NP_001364246.1:p.Arg183SerfsTer21
NM_005767.7:c.549_553del (LPAR6)	NP_005758.2:p.Arg183SerfsTer21