Canonical Allele Identifier: CA609929403

Gene: RB1 LPAR6

Linked Data

• ClinVar Variation Id: 802975
• ClinVar RCV Id: RCV000989123
• dbSNP Id: rs1236830240
• gnomAD v2: 13-48986198-G-GATAC
• gnomAD v3: 13-48412062-G-GATAC
• gnomAD v4: 13-48412062-G-GATAC
• MyVariant Identifiers: chr13:g.48986198_48986199insATAC (hg19) ; chr13:g.48986199_48986201delinsATACGGT (hg19) ; chr13:g.48412062_48412063insATAC (hg38) ; chr13:g.48412063_48412065delinsATACGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412062_48412063insATAC , CM000675.2:g.48412062_48412063insATAC	GRCh38
NC_000013.10:g.48986198_48986199insATAC , CM000675.1:g.48986198_48986199insATAC	GRCh37
NC_000013.9:g.47884199_47884200insATAC	NCBI36
NG_009009.1:g.113316_113317insATAC , LRG_517:g.113316_113317insATAC
NG_012874.1:g.37642_37643insGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30619_1695+30620insATAC (RB1) MANE Select	ENSP00000267163.4:n.1695+30619_1695+30620insATAC
ENST00000620633.5:c.361_362insGTAT (LPAR6) MANE Select	ENSP00000482660.1:p.Pro121ArgfsTer4
ENST00000643064.1:c.194+30619_194+30620insATAC (RB1)
ENST00000650461.1:c.1695+30619_1695+30620insATAC (RB1)	ENSP00000497193.1:n.1695+30619_1695+30620insATAC
ENST00000267163.4:c.1695+30619_1695+30620insATAC (RB1)	ENSP00000267163.4:n.1695+30619_1695+30620insATAC
ENST00000345941.2:c.361_362insGTAT (LPAR6)	ENSP00000344353.2:p.Pro121ArgfsTer4
ENST00000378434.8:c.361_362insGTAT (LPAR6)	ENSP00000367691.3:p.Pro121ArgfsTer4
ENST00000462781.5:n.114+3637_114+3638insGTAT (LPAR6)
ENST00000465365.6:n.1069-3296_1069-3295insGTAT (LPAR6)
ENST00000470937.1:n.117+3637_117+3638insGTAT (LPAR6)
ENST00000482024.1:n.212_213insGTAT (LPAR6)
ENST00000620633.4:c.361_362insGTAT (LPAR6)	ENSP00000482660.1:p.Pro121ArgfsTer4
NM_000321.2:c.1695+30619_1695+30620insATAC , LRG_517t1:c.1695+30619_1695+30620insATAC (RB1)	NP_000312.2:n.1695+30619_1695+30620insATAC
NM_001162497.1:c.361_362insGTAT (LPAR6)	NP_001155969.1:p.Pro121ArgfsTer4
NM_001162498.1:c.361_362insGTAT (LPAR6)	NP_001155970.1:p.Pro121ArgfsTer4
NM_005767.5:c.361_362insGTAT (LPAR6)	NP_005758.2:p.Pro121ArgfsTer4
XM_011535171.1:c.1434+30619_1434+30620insATAC (RB1)	XP_011533473.1:n.1434+30619_1434+30620insATAC
XM_011535171.2:c.1434+30619_1434+30620insATAC (RB1)	XP_011533473.1:n.1434+30619_1434+30620insATAC
XM_024449302.1:c.361_362insGTAT (LPAR6)	XP_024305070.1:p.Pro121ArgfsTer4
XM_024449303.1:c.192+3637_192+3638insGTAT (LPAR6)	XP_024305071.1:n.192+3637_192+3638insGTAT
XM_024449304.1:c.192+3637_192+3638insGTAT (LPAR6)	XP_024305072.1:n.192+3637_192+3638insGTAT
NM_001162497.2:c.361_362insGTAT (LPAR6)	NP_001155969.1:p.Pro121ArgfsTer4
NM_001162498.2:c.361_362insGTAT (LPAR6)	NP_001155970.1:p.Pro121ArgfsTer4
NM_001377316.1:c.361_362insGTAT (LPAR6)	NP_001364245.1:p.Pro121ArgfsTer4
NM_001377317.1:c.361_362insGTAT (LPAR6)	NP_001364246.1:p.Pro121ArgfsTer4
NM_005767.6:c.361_362insGTAT (LPAR6)	NP_005758.2:p.Pro121ArgfsTer4
NM_000321.3:c.1695+30619_1695+30620insATAC (RB1) MANE Select	NP_000312.2:n.1695+30619_1695+30620insATAC
NM_001162497.3:c.361_362insGTAT (LPAR6)	NP_001155969.1:p.Pro121ArgfsTer4
NM_001162498.3:c.361_362insGTAT (LPAR6) MANE Select	NP_001155970.1:p.Pro121ArgfsTer4
NM_001377316.2:c.361_362insGTAT (LPAR6)	NP_001364245.1:p.Pro121ArgfsTer4
NM_001377317.2:c.361_362insGTAT (LPAR6)	NP_001364246.1:p.Pro121ArgfsTer4
NM_005767.7:c.361_362insGTAT (LPAR6)	NP_005758.2:p.Pro121ArgfsTer4