Canonical Allele Identifier: CA2622982442

Gene: RB1 LPAR6

Linked Data

• gnomAD v4: 13-48411994-CAGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48411996_48411999del , CM000675.2:g.48411996_48411999del	GRCh38
NC_000013.10:g.48986132_48986135del , CM000675.1:g.48986132_48986135del	GRCh37
NC_000013.9:g.47884133_47884136del	NCBI36
NG_009009.1:g.113250_113253del , LRG_517:g.113250_113253del
NG_012874.1:g.37707_37710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30553_1695+30556del (RB1) MANE Select	ENSP00000267163.4:n.1695+30553_1695+30556del
ENST00000620633.5:c.426_429del (LPAR6) MANE Select	ENSP00000482660.1:p.Thr143Ter
ENST00000643064.1:c.194+30553_194+30556del (RB1)
ENST00000650461.1:c.1695+30553_1695+30556del (RB1)	ENSP00000497193.1:n.1695+30553_1695+30556del
ENST00000267163.4:c.1695+30553_1695+30556del (RB1)	ENSP00000267163.4:n.1695+30553_1695+30556del
ENST00000345941.2:c.426_429del (LPAR6)	ENSP00000344353.2:p.Thr143Ter
ENST00000378434.8:c.426_429del (LPAR6)	ENSP00000367691.3:p.Thr143Ter
ENST00000462781.5:n.114+3702_114+3705del (LPAR6)
ENST00000465365.6:n.1069-3231_1069-3228del (LPAR6)
ENST00000470937.1:n.117+3702_117+3705del (LPAR6)
ENST00000482024.1:n.277_280del (LPAR6)
ENST00000620633.4:c.426_429del (LPAR6)	ENSP00000482660.1:p.Thr143Ter
NM_000321.2:c.1695+30553_1695+30556del , LRG_517t1:c.1695+30553_1695+30556del (RB1)	NP_000312.2:n.1695+30553_1695+30556del
NM_001162497.1:c.426_429del (LPAR6)	NP_001155969.1:p.Thr143Ter
NM_001162498.1:c.426_429del (LPAR6)	NP_001155970.1:p.Thr143Ter
NM_005767.5:c.426_429del (LPAR6)	NP_005758.2:p.Thr143Ter
XM_011535171.1:c.1434+30553_1434+30556del (RB1)	XP_011533473.1:n.1434+30553_1434+30556del
XM_011535171.2:c.1434+30553_1434+30556del (RB1)	XP_011533473.1:n.1434+30553_1434+30556del
XM_024449302.1:c.426_429del (LPAR6)	XP_024305070.1:p.Thr143Ter
XM_024449303.1:c.192+3702_192+3705del (LPAR6)	XP_024305071.1:n.192+3702_192+3705del
XM_024449304.1:c.192+3702_192+3705del (LPAR6)	XP_024305072.1:n.192+3702_192+3705del
NM_001162497.2:c.426_429del (LPAR6)	NP_001155969.1:p.Thr143Ter
NM_001162498.2:c.426_429del (LPAR6)	NP_001155970.1:p.Thr143Ter
NM_001377316.1:c.426_429del (LPAR6)	NP_001364245.1:p.Thr143Ter
NM_001377317.1:c.426_429del (LPAR6)	NP_001364246.1:p.Thr143Ter
NM_005767.6:c.426_429del (LPAR6)	NP_005758.2:p.Thr143Ter
NM_000321.3:c.1695+30553_1695+30556del (RB1) MANE Select	NP_000312.2:n.1695+30553_1695+30556del
NM_001162497.3:c.426_429del (LPAR6)	NP_001155969.1:p.Thr143Ter
NM_001162498.3:c.426_429del (LPAR6) MANE Select	NP_001155970.1:p.Thr143Ter
NM_001377316.2:c.426_429del (LPAR6)	NP_001364245.1:p.Thr143Ter
NM_001377317.2:c.426_429del (LPAR6)	NP_001364246.1:p.Thr143Ter
NM_005767.7:c.426_429del (LPAR6)	NP_005758.2:p.Thr143Ter