Canonical Allele Identifier: CA993515740

Linked Data

dbSNP Id: rs2147293328

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132489_11132491del , CM000681.2:g.11132489_11132491del GRCh38
NC_000019.9:g.11243165_11243167del , CM000681.1:g.11243165_11243167del GRCh37
NC_000019.8:g.11104165_11104167del NCBI36
NG_009060.1:g.48109_48111del , LRG_274:g.48109_48111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1173_*1175del (LDLR) ENSP00000252444.6:n.*1173_*1175del
ENST00000559340.2:c.*1825_*1827del (LDLR) ENSP00000453696.2:n.*1825_*1827del
ENST00000560467.2:c.*1173_*1175del (LDLR) ENSP00000453513.2:n.*1173_*1175del
ENST00000558518.6:c.*1173_*1175del (LDLR) MANE Select ENSP00000454071.1:n.*1173_*1175del
ENST00000252444.9:c.4010_4012del (LDLR)
ENST00000560628.1:n.109-606_109-604del (LDLR)
ENST00000585567.5:c.540-884_540-882del (SPC24) ENSP00000468818.1:n.540-884_540-882del
NM_000527.4:c.*1173_*1175del , LRG_274t1:c.*1173_*1175del (LDLR) NP_000518.1:n.*1173_*1175del
NM_001195798.1:c.*1173_*1175del (LDLR) NP_001182727.1:n.*1173_*1175del
NM_001195799.1:c.*1173_*1175del (LDLR) NP_001182728.1:n.*1173_*1175del
NM_001195800.1:c.*1173_*1175del (LDLR) NP_001182729.1:n.*1173_*1175del
NM_001195803.1:c.*1173_*1175del (LDLR) NP_001182732.1:n.*1173_*1175del
XM_011528010.1:c.*1173_*1175del (LDLR) XP_011526312.1:n.*1173_*1175del
XM_011528011.1:c.*1173_*1175del (LDLR) XP_011526313.1:n.*1173_*1175del
XM_011528010.2:c.*1173_*1175del (LDLR) XP_011526312.1:n.*1173_*1175del
XR_001753685.2:n.4090_4092del (LDLR)
XR_001753686.2:n.3733_3735del (LDLR)
NM_000527.5:c.*1173_*1175del (LDLR) MANE Select NP_000518.1:n.*1173_*1175del
NM_001195798.2:c.*1173_*1175del (LDLR) NP_001182727.1:n.*1173_*1175del
NM_001195799.2:c.*1173_*1175del (LDLR) NP_001182728.1:n.*1173_*1175del
NM_001195800.2:c.*1173_*1175del (LDLR) NP_001182729.1:n.*1173_*1175del
NM_001195803.2:c.*1173_*1175del (LDLR) NP_001182732.1:n.*1173_*1175del