Canonical Allele Identifier: CA3055672707
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120434_11120438del , CM000681.2:g.11120434_11120438del GRCh38
NC_000019.9:g.11231110_11231114del , CM000681.1:g.11231110_11231114del GRCh37
NC_000019.8:g.11092110_11092114del NCBI36
NG_009060.1:g.36054_36058del , LRG_274:g.36054_36058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2310_2314del ENSP00000252444.6:p.Pro771AspfsTer?
ENST00000559340.2:c.*121_*125del ENSP00000453696.2:n.*121_*125del
ENST00000560467.2:c.1932_1936del ENSP00000453513.2:p.Pro645AspfsTer?
ENST00000558518.6:c.2052_2056del MANE Select ENSP00000454071.1:p.Pro685AspfsTer?
ENST00000252444.9:c.2306_2310del
ENST00000455727.6:c.1548_1552del ENSP00000397829.2:p.Pro517AspfsTer?
ENST00000535915.5:c.1929_1933del ENSP00000440520.1:p.Pro644AspfsTer?
ENST00000545707.5:c.1606+201_1606+205del ENSP00000437639.1:n.1606+201_1606+205del
ENST00000557933.5:c.2052_2056del ENSP00000453557.1:p.Pro685AspfsTer?
ENST00000558013.5:c.2052_2056del ENSP00000453346.1:p.Pro685AspfsTer?
ENST00000558518.5:c.2052_2056del ENSP00000454071.1:p.Pro685AspfsTer?
NM_000527.4:c.2052_2056del , LRG_274t1:c.2052_2056del NP_000518.1:p.Pro685AspfsTer?
NM_001195798.1:c.2052_2056del NP_001182727.1:p.Pro685AspfsTer?
NM_001195799.1:c.1929_1933del NP_001182728.1:p.Pro644AspfsTer?
NM_001195800.1:c.1548_1552del NP_001182729.1:p.Pro517AspfsTer?
NM_001195803.1:c.1606+201_1606+205del NP_001182732.1:n.1606+201_1606+205del
XM_011528010.1:c.2052_2056del XP_011526312.1:p.Pro685AspfsTer?
XM_011528011.1:c.1671_1675del XP_011526313.1:p.Pro558AspfsTer?
XR_244074.2:n.2062_2066del
XM_011528010.2:c.2052_2056del XP_011526312.1:p.Pro685AspfsTer?
XR_001753685.2:n.2169_2173del
XR_001753686.2:n.2029_2033del
NM_000527.5:c.2052_2056del MANE Select NP_000518.1:p.Pro685AspfsTer?
NM_001195798.2:c.2052_2056del NP_001182727.1:p.Pro685AspfsTer?
NM_001195799.2:c.1929_1933del NP_001182728.1:p.Pro644AspfsTer?
NM_001195800.2:c.1548_1552del NP_001182729.1:p.Pro517AspfsTer?
NM_001195803.2:c.1606+201_1606+205del NP_001182732.1:n.1606+201_1606+205del