Canonical Allele Identifier: CA2089995098

Linked Data

dbSNP Id: rs1238999193

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48412713_48412714del , CM000675.2:g.48412713_48412714del GRCh38
NC_000013.10:g.48986849_48986850del , CM000675.1:g.48986849_48986850del GRCh37
NC_000013.9:g.47884850_47884851del NCBI36
NG_009009.1:g.113967_113968del , LRG_517:g.113967_113968del
NG_012874.1:g.36992_36993del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1695+31270_1695+31271del (RB1) MANE Select ENSP00000267163.4:n.1695+31270_1695+31271del
ENST00000620633.5:c.-290_-289del (LPAR6) MANE Select ENSP00000482660.1:n.-290_-289del
ENST00000643064.1:c.194+31270_194+31271del (RB1)
ENST00000650461.1:c.1695+31270_1695+31271del (RB1) ENSP00000497193.1:n.1695+31270_1695+31271del
ENST00000267163.4:c.1695+31270_1695+31271del (RB1) ENSP00000267163.4:n.1695+31270_1695+31271del
ENST00000345941.2:c.-290_-289del (LPAR6) ENSP00000344353.2:n.-290_-289del
ENST00000378434.8:c.-290_-289del (LPAR6) ENSP00000367691.3:n.-290_-289del
ENST00000462781.5:n.114+2987_114+2988del (LPAR6)
ENST00000465365.6:n.1068+2987_1068+2988del (LPAR6)
ENST00000470937.1:n.117+2987_117+2988del (LPAR6)
ENST00000620633.4:c.-290_-289del (LPAR6) ENSP00000482660.1:n.-290_-289del
NM_000321.2:c.1695+31270_1695+31271del , LRG_517t1:c.1695+31270_1695+31271del (RB1) NP_000312.2:n.1695+31270_1695+31271del
NM_001162497.1:c.-290_-289del (LPAR6) NP_001155969.1:n.-290_-289del
NM_001162498.1:c.-290_-289del (LPAR6) NP_001155970.1:n.-290_-289del
NM_005767.5:c.-290_-289del (LPAR6) NP_005758.2:n.-290_-289del
XM_011535171.1:c.1434+31270_1434+31271del (RB1) XP_011533473.1:n.1434+31270_1434+31271del
XM_011535171.2:c.1434+31270_1434+31271del (RB1) XP_011533473.1:n.1434+31270_1434+31271del
XM_024449302.1:c.-290_-289del (LPAR6) XP_024305070.1:n.-290_-289del
XM_024449303.1:c.192+2987_192+2988del (LPAR6) XP_024305071.1:n.192+2987_192+2988del
XM_024449304.1:c.192+2987_192+2988del (LPAR6) XP_024305072.1:n.192+2987_192+2988del
NM_001162497.2:c.-290_-289del (LPAR6) NP_001155969.1:n.-290_-289del
NM_001162498.2:c.-290_-289del (LPAR6) NP_001155970.1:n.-290_-289del
NM_001377316.1:c.-290_-289del (LPAR6) NP_001364245.1:n.-290_-289del
NM_001377317.1:c.-290_-289del (LPAR6) NP_001364246.1:n.-290_-289del
NM_005767.6:c.-290_-289del (LPAR6) NP_005758.2:n.-290_-289del
NM_000321.3:c.1695+31270_1695+31271del (RB1) MANE Select NP_000312.2:n.1695+31270_1695+31271del
NM_001162497.3:c.-290_-289del (LPAR6) NP_001155969.1:n.-290_-289del
NM_001162498.3:c.-290_-289del (LPAR6) MANE Select NP_001155970.1:n.-290_-289del
NM_001377316.2:c.-290_-289del (LPAR6) NP_001364245.1:n.-290_-289del
NM_001377317.2:c.-290_-289del (LPAR6) NP_001364246.1:n.-290_-289del
NM_005767.7:c.-290_-289del (LPAR6) NP_005758.2:n.-290_-289del