Canonical Allele Identifier: CA955788458

Gene: RB1 LPAR6

Linked Data

• gnomAD v3: 13-48412077-A-ACC
• gnomAD v4: 13-48412077-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412077_48412078insCC , CM000675.2:g.48412077_48412078insCC	GRCh38
NC_000013.10:g.48986213_48986214insCC , CM000675.1:g.48986213_48986214insCC	GRCh37
NC_000013.9:g.47884214_47884215insCC	NCBI36
NG_009009.1:g.113331_113332insCC , LRG_517:g.113331_113332insCC
NG_012874.1:g.37627_37628insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30634_1695+30635insCC (RB1) MANE Select	ENSP00000267163.4:n.1695+30634_1695+30635insCC
ENST00000620633.5:c.346_347insGG (LPAR6) MANE Select	ENSP00000482660.1:p.Leu116ArgfsTer13
ENST00000643064.1:c.194+30634_194+30635insCC (RB1)
ENST00000650461.1:c.1695+30634_1695+30635insCC (RB1)	ENSP00000497193.1:n.1695+30634_1695+30635insCC
ENST00000267163.4:c.1695+30634_1695+30635insCC (RB1)	ENSP00000267163.4:n.1695+30634_1695+30635insCC
ENST00000345941.2:c.346_347insGG (LPAR6)	ENSP00000344353.2:p.Leu116ArgfsTer13
ENST00000378434.8:c.346_347insGG (LPAR6)	ENSP00000367691.3:p.Leu116ArgfsTer13
ENST00000462781.5:n.114+3622_114+3623insGG (LPAR6)
ENST00000465365.6:n.1069-3311_1069-3310insGG (LPAR6)
ENST00000470937.1:n.117+3622_117+3623insGG (LPAR6)
ENST00000482024.1:n.197_198insGG (LPAR6)
ENST00000620633.4:c.346_347insGG (LPAR6)	ENSP00000482660.1:p.Leu116ArgfsTer13
NM_000321.2:c.1695+30634_1695+30635insCC , LRG_517t1:c.1695+30634_1695+30635insCC (RB1)	NP_000312.2:n.1695+30634_1695+30635insCC
NM_001162497.1:c.346_347insGG (LPAR6)	NP_001155969.1:p.Leu116ArgfsTer13
NM_001162498.1:c.346_347insGG (LPAR6)	NP_001155970.1:p.Leu116ArgfsTer13
NM_005767.5:c.346_347insGG (LPAR6)	NP_005758.2:p.Leu116ArgfsTer13
XM_011535171.1:c.1434+30634_1434+30635insCC (RB1)	XP_011533473.1:n.1434+30634_1434+30635insCC
XM_011535171.2:c.1434+30634_1434+30635insCC (RB1)	XP_011533473.1:n.1434+30634_1434+30635insCC
XM_024449302.1:c.346_347insGG (LPAR6)	XP_024305070.1:p.Leu116ArgfsTer13
XM_024449303.1:c.192+3622_192+3623insGG (LPAR6)	XP_024305071.1:n.192+3622_192+3623insGG
XM_024449304.1:c.192+3622_192+3623insGG (LPAR6)	XP_024305072.1:n.192+3622_192+3623insGG
NM_001162497.2:c.346_347insGG (LPAR6)	NP_001155969.1:p.Leu116ArgfsTer13
NM_001162498.2:c.346_347insGG (LPAR6)	NP_001155970.1:p.Leu116ArgfsTer13
NM_001377316.1:c.346_347insGG (LPAR6)	NP_001364245.1:p.Leu116ArgfsTer13
NM_001377317.1:c.346_347insGG (LPAR6)	NP_001364246.1:p.Leu116ArgfsTer13
NM_005767.6:c.346_347insGG (LPAR6)	NP_005758.2:p.Leu116ArgfsTer13
NM_000321.3:c.1695+30634_1695+30635insCC (RB1) MANE Select	NP_000312.2:n.1695+30634_1695+30635insCC
NM_001162497.3:c.346_347insGG (LPAR6)	NP_001155969.1:p.Leu116ArgfsTer13
NM_001162498.3:c.346_347insGG (LPAR6) MANE Select	NP_001155970.1:p.Leu116ArgfsTer13
NM_001377316.2:c.346_347insGG (LPAR6)	NP_001364245.1:p.Leu116ArgfsTer13
NM_001377317.2:c.346_347insGG (LPAR6)	NP_001364246.1:p.Leu116ArgfsTer13
NM_005767.7:c.346_347insGG (LPAR6)	NP_005758.2:p.Leu116ArgfsTer13