Canonical Allele Identifier: CA955788370

Gene: RB1 LPAR6

Linked Data

• gnomAD v3: 13-48412068-A-ATACGG
• gnomAD v4: 13-48412068-A-ATACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412068_48412069insTACGG , CM000675.2:g.48412068_48412069insTACGG	GRCh38
NC_000013.10:g.48986204_48986205insTACGG , CM000675.1:g.48986204_48986205insTACGG	GRCh37
NC_000013.9:g.47884205_47884206insTACGG	NCBI36
NG_009009.1:g.113322_113323insTACGG , LRG_517:g.113322_113323insTACGG
NG_012874.1:g.37636_37637insCCGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30625_1695+30626insTACGG (RB1) MANE Select	ENSP00000267163.4:n.1695+30625_1695+30626insTACGG
ENST00000620633.5:c.355_356insCCGTA (LPAR6) MANE Select	ENSP00000482660.1:p.Val119AlafsTer11
ENST00000643064.1:c.194+30625_194+30626insTACGG (RB1)
ENST00000650461.1:c.1695+30625_1695+30626insTACGG (RB1)	ENSP00000497193.1:n.1695+30625_1695+30626insTACGG
ENST00000267163.4:c.1695+30625_1695+30626insTACGG (RB1)	ENSP00000267163.4:n.1695+30625_1695+30626insTACGG
ENST00000345941.2:c.355_356insCCGTA (LPAR6)	ENSP00000344353.2:p.Val119AlafsTer11
ENST00000378434.8:c.355_356insCCGTA (LPAR6)	ENSP00000367691.3:p.Val119AlafsTer11
ENST00000462781.5:n.114+3631_114+3632insCCGTA (LPAR6)
ENST00000465365.6:n.1069-3302_1069-3301insCCGTA (LPAR6)
ENST00000470937.1:n.117+3631_117+3632insCCGTA (LPAR6)
ENST00000482024.1:n.206_207insCCGTA (LPAR6)
ENST00000620633.4:c.355_356insCCGTA (LPAR6)	ENSP00000482660.1:p.Val119AlafsTer11
NM_000321.2:c.1695+30625_1695+30626insTACGG , LRG_517t1:c.1695+30625_1695+30626insTACGG (RB1)	NP_000312.2:n.1695+30625_1695+30626insTACGG
NM_001162497.1:c.355_356insCCGTA (LPAR6)	NP_001155969.1:p.Val119AlafsTer11
NM_001162498.1:c.355_356insCCGTA (LPAR6)	NP_001155970.1:p.Val119AlafsTer11
NM_005767.5:c.355_356insCCGTA (LPAR6)	NP_005758.2:p.Val119AlafsTer11
XM_011535171.1:c.1434+30625_1434+30626insTACGG (RB1)	XP_011533473.1:n.1434+30625_1434+30626insTACGG
XM_011535171.2:c.1434+30625_1434+30626insTACGG (RB1)	XP_011533473.1:n.1434+30625_1434+30626insTACGG
XM_024449302.1:c.355_356insCCGTA (LPAR6)	XP_024305070.1:p.Val119AlafsTer11
XM_024449303.1:c.192+3631_192+3632insCCGTA (LPAR6)	XP_024305071.1:n.192+3631_192+3632insCCGTA
XM_024449304.1:c.192+3631_192+3632insCCGTA (LPAR6)	XP_024305072.1:n.192+3631_192+3632insCCGTA
NM_001162497.2:c.355_356insCCGTA (LPAR6)	NP_001155969.1:p.Val119AlafsTer11
NM_001162498.2:c.355_356insCCGTA (LPAR6)	NP_001155970.1:p.Val119AlafsTer11
NM_001377316.1:c.355_356insCCGTA (LPAR6)	NP_001364245.1:p.Val119AlafsTer11
NM_001377317.1:c.355_356insCCGTA (LPAR6)	NP_001364246.1:p.Val119AlafsTer11
NM_005767.6:c.355_356insCCGTA (LPAR6)	NP_005758.2:p.Val119AlafsTer11
NM_000321.3:c.1695+30625_1695+30626insTACGG (RB1) MANE Select	NP_000312.2:n.1695+30625_1695+30626insTACGG
NM_001162497.3:c.355_356insCCGTA (LPAR6)	NP_001155969.1:p.Val119AlafsTer11
NM_001162498.3:c.355_356insCCGTA (LPAR6) MANE Select	NP_001155970.1:p.Val119AlafsTer11
NM_001377316.2:c.355_356insCCGTA (LPAR6)	NP_001364245.1:p.Val119AlafsTer11
NM_001377317.2:c.355_356insCCGTA (LPAR6)	NP_001364246.1:p.Val119AlafsTer11
NM_005767.7:c.355_356insCCGTA (LPAR6)	NP_005758.2:p.Val119AlafsTer11