Canonical Allele Identifier: CA2580087576

Gene: RB1 LPAR6

Linked Data

• ClinVar Variation Id: 1802233
• ClinVar RCV Id: RCV002465046
• gnomAD v4: 13-48412213-G-GTAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412214_48412217dup , CM000675.2:g.48412214_48412217dup	GRCh38
NC_000013.10:g.48986350_48986353dup , CM000675.1:g.48986350_48986353dup	GRCh37
NC_000013.9:g.47884351_47884354dup	NCBI36
NG_009009.1:g.113468_113471dup , LRG_517:g.113468_113471dup
NG_012874.1:g.37488_37491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30771_1695+30774dup (RB1) MANE Select	ENSP00000267163.4:n.1695+30771_1695+30774dup
ENST00000620633.5:c.207_210dup (LPAR6) MANE Select	ENSP00000482660.1:p.Pro71PhefsTer21
ENST00000643064.1:c.194+30771_194+30774dup (RB1)
ENST00000650461.1:c.1695+30771_1695+30774dup (RB1)	ENSP00000497193.1:n.1695+30771_1695+30774dup
ENST00000267163.4:c.1695+30771_1695+30774dup (RB1)	ENSP00000267163.4:n.1695+30771_1695+30774dup
ENST00000345941.2:c.207_210dup (LPAR6)	ENSP00000344353.2:p.Pro71PhefsTer21
ENST00000378434.8:c.207_210dup (LPAR6)	ENSP00000367691.3:p.Pro71PhefsTer21
ENST00000462781.5:n.114+3483_114+3486dup (LPAR6)
ENST00000465365.6:n.1069-3450_1069-3447dup (LPAR6)
ENST00000470937.1:n.117+3483_117+3486dup (LPAR6)
ENST00000482024.1:n.70-12_70-9dup (LPAR6)
ENST00000620633.4:c.207_210dup (LPAR6)	ENSP00000482660.1:p.Pro71PhefsTer21
NM_000321.2:c.1695+30771_1695+30774dup , LRG_517t1:c.1695+30771_1695+30774dup (RB1)	NP_000312.2:n.1695+30771_1695+30774dup
NM_001162497.1:c.207_210dup (LPAR6)	NP_001155969.1:p.Pro71PhefsTer21
NM_001162498.1:c.207_210dup (LPAR6)	NP_001155970.1:p.Pro71PhefsTer21
NM_005767.5:c.207_210dup (LPAR6)	NP_005758.2:p.Pro71PhefsTer21
XM_011535171.1:c.1434+30771_1434+30774dup (RB1)	XP_011533473.1:n.1434+30771_1434+30774dup
XM_011535171.2:c.1434+30771_1434+30774dup (RB1)	XP_011533473.1:n.1434+30771_1434+30774dup
XM_024449302.1:c.207_210dup (LPAR6)	XP_024305070.1:p.Pro71PhefsTer21
XM_024449303.1:c.192+3483_192+3486dup (LPAR6)	XP_024305071.1:n.192+3483_192+3486dup
XM_024449304.1:c.192+3483_192+3486dup (LPAR6)	XP_024305072.1:n.192+3483_192+3486dup
NM_001162497.2:c.207_210dup (LPAR6)	NP_001155969.1:p.Pro71PhefsTer21
NM_001162498.2:c.207_210dup (LPAR6)	NP_001155970.1:p.Pro71PhefsTer21
NM_001377316.1:c.207_210dup (LPAR6)	NP_001364245.1:p.Pro71PhefsTer21
NM_001377317.1:c.207_210dup (LPAR6)	NP_001364246.1:p.Pro71PhefsTer21
NM_005767.6:c.207_210dup (LPAR6)	NP_005758.2:p.Pro71PhefsTer21
NM_000321.3:c.1695+30771_1695+30774dup (RB1) MANE Select	NP_000312.2:n.1695+30771_1695+30774dup
NM_001162497.3:c.207_210dup (LPAR6)	NP_001155969.1:p.Pro71PhefsTer21
NM_001162498.3:c.207_210dup (LPAR6) MANE Select	NP_001155970.1:p.Pro71PhefsTer21
NM_001377316.2:c.207_210dup (LPAR6)	NP_001364245.1:p.Pro71PhefsTer21
NM_001377317.2:c.207_210dup (LPAR6)	NP_001364246.1:p.Pro71PhefsTer21
NM_005767.7:c.207_210dup (LPAR6)	NP_005758.2:p.Pro71PhefsTer21