Canonical Allele Identifier: CA609929406

Gene: RB1 LPAR6

Linked Data

• ClinVar Variation Id: 802979
• ClinVar RCV Id: RCV000989127
• dbSNP Id: rs1200570253
• gnomAD v2: 13-48986207-ATTG-A
• gnomAD v3: 13-48412071-ATTG-A
• gnomAD v4: 13-48412071-ATTG-A
• MyVariant Identifiers: chr13:g.48986208_48986210del (hg19) ; chr13:g.48986208_48986211delinsC (hg19) ; chr13:g.48412072_48412074del (hg38) ; chr13:g.48412072_48412075delinsC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412072_48412074del , CM000675.2:g.48412072_48412074del	GRCh38
NC_000013.10:g.48986208_48986210del , CM000675.1:g.48986208_48986210del	GRCh37
NC_000013.9:g.47884209_47884211del	NCBI36
NG_009009.1:g.113326_113328del , LRG_517:g.113326_113328del
NG_012874.1:g.37631_37633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30629_1695+30631del (RB1) MANE Select	ENSP00000267163.4:n.1695+30629_1695+30631del
ENST00000620633.5:c.350_352del (LPAR6) MANE Select	ENSP00000482660.1:p.Ala117_Ile118delinsVal
ENST00000643064.1:c.194+30629_194+30631del (RB1)
ENST00000650461.1:c.1695+30629_1695+30631del (RB1)	ENSP00000497193.1:n.1695+30629_1695+30631del
ENST00000267163.4:c.1695+30629_1695+30631del (RB1)	ENSP00000267163.4:n.1695+30629_1695+30631del
ENST00000345941.2:c.350_352del (LPAR6)	ENSP00000344353.2:p.Ala117_Ile118delinsVal
ENST00000378434.8:c.350_352del (LPAR6)	ENSP00000367691.3:p.Ala117_Ile118delinsVal
ENST00000462781.5:n.114+3626_114+3628del (LPAR6)
ENST00000465365.6:n.1069-3307_1069-3305del (LPAR6)
ENST00000470937.1:n.117+3626_117+3628del (LPAR6)
ENST00000482024.1:n.201_203del (LPAR6)
ENST00000620633.4:c.350_352del (LPAR6)	ENSP00000482660.1:p.Ala117_Ile118delinsVal
NM_000321.2:c.1695+30629_1695+30631del , LRG_517t1:c.1695+30629_1695+30631del (RB1)	NP_000312.2:n.1695+30629_1695+30631del
NM_001162497.1:c.350_352del (LPAR6)	NP_001155969.1:p.Ala117_Ile118delinsVal
NM_001162498.1:c.350_352del (LPAR6)	NP_001155970.1:p.Ala117_Ile118delinsVal
NM_005767.5:c.350_352del (LPAR6)	NP_005758.2:p.Ala117_Ile118delinsVal
XM_011535171.1:c.1434+30629_1434+30631del (RB1)	XP_011533473.1:n.1434+30629_1434+30631del
XM_011535171.2:c.1434+30629_1434+30631del (RB1)	XP_011533473.1:n.1434+30629_1434+30631del
XM_024449302.1:c.350_352del (LPAR6)	XP_024305070.1:p.Ala117_Ile118delinsVal
XM_024449303.1:c.192+3626_192+3628del (LPAR6)	XP_024305071.1:n.192+3626_192+3628del
XM_024449304.1:c.192+3626_192+3628del (LPAR6)	XP_024305072.1:n.192+3626_192+3628del
NM_001162497.2:c.350_352del (LPAR6)	NP_001155969.1:p.Ala117_Ile118delinsVal
NM_001162498.2:c.350_352del (LPAR6)	NP_001155970.1:p.Ala117_Ile118delinsVal
NM_001377316.1:c.350_352del (LPAR6)	NP_001364245.1:p.Ala117_Ile118delinsVal
NM_001377317.1:c.350_352del (LPAR6)	NP_001364246.1:p.Ala117_Ile118delinsVal
NM_005767.6:c.350_352del (LPAR6)	NP_005758.2:p.Ala117_Ile118delinsVal
NM_000321.3:c.1695+30629_1695+30631del (RB1) MANE Select	NP_000312.2:n.1695+30629_1695+30631del
NM_001162497.3:c.350_352del (LPAR6)	NP_001155969.1:p.Ala117_Ile118delinsVal
NM_001162498.3:c.350_352del (LPAR6) MANE Select	NP_001155970.1:p.Ala117_Ile118delinsVal
NM_001377316.2:c.350_352del (LPAR6)	NP_001364245.1:p.Ala117_Ile118delinsVal
NM_001377317.2:c.350_352del (LPAR6)	NP_001364246.1:p.Ala117_Ile118delinsVal
NM_005767.7:c.350_352del (LPAR6)	NP_005758.2:p.Ala117_Ile118delinsVal