Canonical Allele Identifier: CA609929410

Gene: RB1 LPAR6

Linked Data

• ClinVar Variation Id: 802981
• ClinVar RCV Id: RCV000989129
• dbSNP Id: rs1198561901
• gnomAD v2: 13-48986215-AAATC-A
• gnomAD v3: 13-48412079-AAATC-A
• gnomAD v4: 13-48412079-AAATC-A
• MyVariant Identifiers: chr13:g.48986216_48986219del (hg19) ; chr13:g.48412080_48412083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412080_48412083del , CM000675.2:g.48412080_48412083del	GRCh38
NC_000013.10:g.48986216_48986219del , CM000675.1:g.48986216_48986219del	GRCh37
NC_000013.9:g.47884217_47884220del	NCBI36
NG_009009.1:g.113334_113337del , LRG_517:g.113334_113337del
NG_012874.1:g.37622_37625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30637_1695+30640del (RB1) MANE Select	ENSP00000267163.4:n.1695+30637_1695+30640del
ENST00000620633.5:c.341_344del (LPAR6) MANE Select	ENSP00000482660.1:p.Arg114LeufsTer13
ENST00000643064.1:c.194+30637_194+30640del (RB1)
ENST00000650461.1:c.1695+30637_1695+30640del (RB1)	ENSP00000497193.1:n.1695+30637_1695+30640del
ENST00000267163.4:c.1695+30637_1695+30640del (RB1)	ENSP00000267163.4:n.1695+30637_1695+30640del
ENST00000345941.2:c.341_344del (LPAR6)	ENSP00000344353.2:p.Arg114LeufsTer13
ENST00000378434.8:c.341_344del (LPAR6)	ENSP00000367691.3:p.Arg114LeufsTer13
ENST00000462781.5:n.114+3617_114+3620del (LPAR6)
ENST00000465365.6:n.1069-3316_1069-3313del (LPAR6)
ENST00000470937.1:n.117+3617_117+3620del (LPAR6)
ENST00000482024.1:n.192_195del (LPAR6)
ENST00000620633.4:c.341_344del (LPAR6)	ENSP00000482660.1:p.Arg114LeufsTer13
NM_000321.2:c.1695+30637_1695+30640del , LRG_517t1:c.1695+30637_1695+30640del (RB1)	NP_000312.2:n.1695+30637_1695+30640del
NM_001162497.1:c.341_344del (LPAR6)	NP_001155969.1:p.Arg114LeufsTer13
NM_001162498.1:c.341_344del (LPAR6)	NP_001155970.1:p.Arg114LeufsTer13
NM_005767.5:c.341_344del (LPAR6)	NP_005758.2:p.Arg114LeufsTer13
XM_011535171.1:c.1434+30637_1434+30640del (RB1)	XP_011533473.1:n.1434+30637_1434+30640del
XM_011535171.2:c.1434+30637_1434+30640del (RB1)	XP_011533473.1:n.1434+30637_1434+30640del
XM_024449302.1:c.341_344del (LPAR6)	XP_024305070.1:p.Arg114LeufsTer13
XM_024449303.1:c.192+3617_192+3620del (LPAR6)	XP_024305071.1:n.192+3617_192+3620del
XM_024449304.1:c.192+3617_192+3620del (LPAR6)	XP_024305072.1:n.192+3617_192+3620del
NM_001162497.2:c.341_344del (LPAR6)	NP_001155969.1:p.Arg114LeufsTer13
NM_001162498.2:c.341_344del (LPAR6)	NP_001155970.1:p.Arg114LeufsTer13
NM_001377316.1:c.341_344del (LPAR6)	NP_001364245.1:p.Arg114LeufsTer13
NM_001377317.1:c.341_344del (LPAR6)	NP_001364246.1:p.Arg114LeufsTer13
NM_005767.6:c.341_344del (LPAR6)	NP_005758.2:p.Arg114LeufsTer13
NM_000321.3:c.1695+30637_1695+30640del (RB1) MANE Select	NP_000312.2:n.1695+30637_1695+30640del
NM_001162497.3:c.341_344del (LPAR6)	NP_001155969.1:p.Arg114LeufsTer13
NM_001162498.3:c.341_344del (LPAR6) MANE Select	NP_001155970.1:p.Arg114LeufsTer13
NM_001377316.2:c.341_344del (LPAR6)	NP_001364245.1:p.Arg114LeufsTer13
NM_001377317.2:c.341_344del (LPAR6)	NP_001364246.1:p.Arg114LeufsTer13
NM_005767.7:c.341_344del (LPAR6)	NP_005758.2:p.Arg114LeufsTer13