Canonical Allele Identifier: CA955788263

Gene: RB1 LPAR6

Linked Data

• gnomAD v3: 13-48412058-A-ATTTT
• gnomAD v4: 13-48412058-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412058_48412059insTTTT , CM000675.2:g.48412058_48412059insTTTT	GRCh38
NC_000013.10:g.48986194_48986195insTTTT , CM000675.1:g.48986194_48986195insTTTT	GRCh37
NC_000013.9:g.47884195_47884196insTTTT	NCBI36
NG_009009.1:g.113312_113313insTTTT , LRG_517:g.113312_113313insTTTT
NG_012874.1:g.37646_37647insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30615_1695+30616insTTTT (RB1) MANE Select	ENSP00000267163.4:n.1695+30615_1695+30616insTTTT
ENST00000620633.5:c.365_366insAAAA (LPAR6) MANE Select	ENSP00000482660.1:p.Phe122LeufsTer3
ENST00000643064.1:c.194+30615_194+30616insTTTT (RB1)
ENST00000650461.1:c.1695+30615_1695+30616insTTTT (RB1)	ENSP00000497193.1:n.1695+30615_1695+30616insTTTT
ENST00000267163.4:c.1695+30615_1695+30616insTTTT (RB1)	ENSP00000267163.4:n.1695+30615_1695+30616insTTTT
ENST00000345941.2:c.365_366insAAAA (LPAR6)	ENSP00000344353.2:p.Phe122LeufsTer3
ENST00000378434.8:c.365_366insAAAA (LPAR6)	ENSP00000367691.3:p.Phe122LeufsTer3
ENST00000462781.5:n.114+3641_114+3642insAAAA (LPAR6)
ENST00000465365.6:n.1069-3292_1069-3291insAAAA (LPAR6)
ENST00000470937.1:n.117+3641_117+3642insAAAA (LPAR6)
ENST00000482024.1:n.216_217insAAAA (LPAR6)
ENST00000620633.4:c.365_366insAAAA (LPAR6)	ENSP00000482660.1:p.Phe122LeufsTer3
NM_000321.2:c.1695+30615_1695+30616insTTTT , LRG_517t1:c.1695+30615_1695+30616insTTTT (RB1)	NP_000312.2:n.1695+30615_1695+30616insTTTT
NM_001162497.1:c.365_366insAAAA (LPAR6)	NP_001155969.1:p.Phe122LeufsTer3
NM_001162498.1:c.365_366insAAAA (LPAR6)	NP_001155970.1:p.Phe122LeufsTer3
NM_005767.5:c.365_366insAAAA (LPAR6)	NP_005758.2:p.Phe122LeufsTer3
XM_011535171.1:c.1434+30615_1434+30616insTTTT (RB1)	XP_011533473.1:n.1434+30615_1434+30616insTTTT
XM_011535171.2:c.1434+30615_1434+30616insTTTT (RB1)	XP_011533473.1:n.1434+30615_1434+30616insTTTT
XM_024449302.1:c.365_366insAAAA (LPAR6)	XP_024305070.1:p.Phe122LeufsTer3
XM_024449303.1:c.192+3641_192+3642insAAAA (LPAR6)	XP_024305071.1:n.192+3641_192+3642insAAAA
XM_024449304.1:c.192+3641_192+3642insAAAA (LPAR6)	XP_024305072.1:n.192+3641_192+3642insAAAA
NM_001162497.2:c.365_366insAAAA (LPAR6)	NP_001155969.1:p.Phe122LeufsTer3
NM_001162498.2:c.365_366insAAAA (LPAR6)	NP_001155970.1:p.Phe122LeufsTer3
NM_001377316.1:c.365_366insAAAA (LPAR6)	NP_001364245.1:p.Phe122LeufsTer3
NM_001377317.1:c.365_366insAAAA (LPAR6)	NP_001364246.1:p.Phe122LeufsTer3
NM_005767.6:c.365_366insAAAA (LPAR6)	NP_005758.2:p.Phe122LeufsTer3
NM_000321.3:c.1695+30615_1695+30616insTTTT (RB1) MANE Select	NP_000312.2:n.1695+30615_1695+30616insTTTT
NM_001162497.3:c.365_366insAAAA (LPAR6)	NP_001155969.1:p.Phe122LeufsTer3
NM_001162498.3:c.365_366insAAAA (LPAR6) MANE Select	NP_001155970.1:p.Phe122LeufsTer3
NM_001377316.2:c.365_366insAAAA (LPAR6)	NP_001364245.1:p.Phe122LeufsTer3
NM_001377317.2:c.365_366insAAAA (LPAR6)	NP_001364246.1:p.Phe122LeufsTer3
NM_005767.7:c.365_366insAAAA (LPAR6)	NP_005758.2:p.Phe122LeufsTer3