Canonical Allele Identifier: CA2622982555

Gene: RB1 LPAR6

Linked Data

• gnomAD v4: 13-48412593-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412593_48412594insG , CM000675.2:g.48412593_48412594insG	GRCh38
NC_000013.10:g.48986729_48986730insG , CM000675.1:g.48986729_48986730insG	GRCh37
NC_000013.9:g.47884730_47884731insG	NCBI36
NG_009009.1:g.113847_113848insG , LRG_517:g.113847_113848insG
NG_012874.1:g.37111_37112insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+31150_1695+31151insG (RB1) MANE Select	ENSP00000267163.4:n.1695+31150_1695+31151insG
ENST00000620633.5:c.-171_-170insC (LPAR6) MANE Select	ENSP00000482660.1:n.-171_-170insC
ENST00000643064.1:c.194+31150_194+31151insG (RB1)
ENST00000650461.1:c.1695+31150_1695+31151insG (RB1)	ENSP00000497193.1:n.1695+31150_1695+31151insG
ENST00000267163.4:c.1695+31150_1695+31151insG (RB1)	ENSP00000267163.4:n.1695+31150_1695+31151insG
ENST00000345941.2:c.-171_-170insC (LPAR6)	ENSP00000344353.2:n.-171_-170insC
ENST00000378434.8:c.-171_-170insC (LPAR6)	ENSP00000367691.3:n.-171_-170insC
ENST00000462781.5:n.114+3106_114+3107insC (LPAR6)
ENST00000465365.6:n.1068+3106_1068+3107insC (LPAR6)
ENST00000470937.1:n.117+3106_117+3107insC (LPAR6)
ENST00000620633.4:c.-171_-170insC (LPAR6)	ENSP00000482660.1:n.-171_-170insC
NM_000321.2:c.1695+31150_1695+31151insG , LRG_517t1:c.1695+31150_1695+31151insG (RB1)	NP_000312.2:n.1695+31150_1695+31151insG
NM_001162497.1:c.-171_-170insC (LPAR6)	NP_001155969.1:n.-171_-170insC
NM_001162498.1:c.-171_-170insC (LPAR6)	NP_001155970.1:n.-171_-170insC
NM_005767.5:c.-171_-170insC (LPAR6)	NP_005758.2:n.-171_-170insC
XM_011535171.1:c.1434+31150_1434+31151insG (RB1)	XP_011533473.1:n.1434+31150_1434+31151insG
XM_011535171.2:c.1434+31150_1434+31151insG (RB1)	XP_011533473.1:n.1434+31150_1434+31151insG
XM_024449302.1:c.-171_-170insC (LPAR6)	XP_024305070.1:n.-171_-170insC
XM_024449303.1:c.192+3106_192+3107insC (LPAR6)	XP_024305071.1:n.192+3106_192+3107insC
XM_024449304.1:c.192+3106_192+3107insC (LPAR6)	XP_024305072.1:n.192+3106_192+3107insC
NM_001162497.2:c.-171_-170insC (LPAR6)	NP_001155969.1:n.-171_-170insC
NM_001162498.2:c.-171_-170insC (LPAR6)	NP_001155970.1:n.-171_-170insC
NM_001377316.1:c.-171_-170insC (LPAR6)	NP_001364245.1:n.-171_-170insC
NM_001377317.1:c.-171_-170insC (LPAR6)	NP_001364246.1:n.-171_-170insC
NM_005767.6:c.-171_-170insC (LPAR6)	NP_005758.2:n.-171_-170insC
NM_000321.3:c.1695+31150_1695+31151insG (RB1) MANE Select	NP_000312.2:n.1695+31150_1695+31151insG
NM_001162497.3:c.-171_-170insC (LPAR6)	NP_001155969.1:n.-171_-170insC
NM_001162498.3:c.-171_-170insC (LPAR6) MANE Select	NP_001155970.1:n.-171_-170insC
NM_001377316.2:c.-171_-170insC (LPAR6)	NP_001364245.1:n.-171_-170insC
NM_001377317.2:c.-171_-170insC (LPAR6)	NP_001364246.1:n.-171_-170insC
NM_005767.7:c.-171_-170insC (LPAR6)	NP_005758.2:n.-171_-170insC