Canonical Allele Identifier: CA609579119

Gene: RB1 LPAR6

Linked Data

• dbSNP Id: rs1428113698
• gnomAD v2: 13-48987378-A-AAT
• gnomAD v3: 13-48413242-A-AAT
• gnomAD v4: 13-48413242-A-AAT
• MyVariant Identifiers: chr13:g.48987378_48987379insAT (hg19) ; chr13:g.48413242_48413243insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48413246_48413247dup , CM000675.2:g.48413246_48413247dup	GRCh38
NC_000013.10:g.48987382_48987383dup , CM000675.1:g.48987382_48987383dup	GRCh37
NC_000013.9:g.47885383_47885384dup	NCBI36
NG_009009.1:g.114500_114501dup , LRG_517:g.114500_114501dup
NG_012874.1:g.36461_36462dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+31803_1695+31804dup (RB1) MANE Select	ENSP00000267163.4:n.1695+31803_1695+31804dup
ENST00000643064.1:c.194+31803_194+31804dup (RB1)
ENST00000650461.1:c.1695+31803_1695+31804dup (RB1)	ENSP00000497193.1:n.1695+31803_1695+31804dup
ENST00000267163.4:c.1695+31803_1695+31804dup (RB1)	ENSP00000267163.4:n.1695+31803_1695+31804dup
ENST00000345941.2:c.-688-133_-688-132dup (LPAR6)	ENSP00000344353.2:n.-688-133_-688-132dup
ENST00000378434.8:c.-688-133_-688-132dup (LPAR6)	ENSP00000367691.3:n.-688-133_-688-132dup
ENST00000462781.5:n.114+2456_114+2457dup (LPAR6)
ENST00000465365.6:n.1068+2456_1068+2457dup (LPAR6)
ENST00000470937.1:n.117+2456_117+2457dup (LPAR6)
ENST00000620633.4:c.-688-133_-688-132dup (LPAR6)	ENSP00000482660.1:n.-688-133_-688-132dup
NM_000321.2:c.1695+31803_1695+31804dup , LRG_517t1:c.1695+31803_1695+31804dup (RB1)	NP_000312.2:n.1695+31803_1695+31804dup
NM_001162497.1:c.-688-133_-688-132dup (LPAR6)	NP_001155969.1:n.-688-133_-688-132dup
NM_001162498.1:c.-821_-820dup (LPAR6)	NP_001155970.1:n.-821_-820dup
NM_005767.5:c.-688-133_-688-132dup (LPAR6)	NP_005758.2:n.-688-133_-688-132dup
XM_011535171.1:c.1434+31803_1434+31804dup (RB1)	XP_011533473.1:n.1434+31803_1434+31804dup
XM_011535171.2:c.1434+31803_1434+31804dup (RB1)	XP_011533473.1:n.1434+31803_1434+31804dup
XM_024449302.1:c.-688-133_-688-132dup (LPAR6)	XP_024305070.1:n.-688-133_-688-132dup
XM_024449303.1:c.192+2456_192+2457dup (LPAR6)	XP_024305071.1:n.192+2456_192+2457dup
XM_024449304.1:c.192+2456_192+2457dup (LPAR6)	XP_024305072.1:n.192+2456_192+2457dup
NM_001162497.2:c.-688-133_-688-132dup (LPAR6)	NP_001155969.1:n.-688-133_-688-132dup
NM_001377316.1:c.-688-133_-688-132dup (LPAR6)	NP_001364245.1:n.-688-133_-688-132dup
NM_001377317.1:c.-688-133_-688-132dup (LPAR6)	NP_001364246.1:n.-688-133_-688-132dup
NM_005767.6:c.-688-133_-688-132dup (LPAR6)	NP_005758.2:n.-688-133_-688-132dup
NM_000321.3:c.1695+31803_1695+31804dup (RB1) MANE Select	NP_000312.2:n.1695+31803_1695+31804dup
NM_001162497.3:c.-688-133_-688-132dup (LPAR6)	NP_001155969.1:n.-688-133_-688-132dup
NM_001377316.2:c.-688-133_-688-132dup (LPAR6)	NP_001364245.1:n.-688-133_-688-132dup
NM_001377317.2:c.-688-133_-688-132dup (LPAR6)	NP_001364246.1:n.-688-133_-688-132dup
NM_005767.7:c.-688-133_-688-132dup (LPAR6)	NP_005758.2:n.-688-133_-688-132dup