Canonical Allele Identifier: CA2695228174
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120451_11120466dup , CM000681.2:g.11120451_11120466dup GRCh38
NC_000019.9:g.11231127_11231142dup , CM000681.1:g.11231127_11231142dup GRCh37
NC_000019.8:g.11092127_11092142dup NCBI36
NG_009060.1:g.36071_36086dup , LRG_274:g.36071_36086dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2327_2342dup ENSP00000252444.6:p.Cys782LeufsTer26
ENST00000559340.2:c.*138_*153dup ENSP00000453696.2:n.*138_*153dup
ENST00000560467.2:c.1949_1964dup ENSP00000453513.2:p.Cys656LeufsTer26
ENST00000558518.6:c.2069_2084dup MANE Select ENSP00000454071.1:p.Cys696LeufsTer26
ENST00000252444.9:c.2323_2338dup
ENST00000455727.6:c.1565_1580dup ENSP00000397829.2:p.Cys528LeufsTer26
ENST00000535915.5:c.1946_1961dup ENSP00000440520.1:p.Cys655LeufsTer26
ENST00000545707.5:c.1606+218_1606+233dup ENSP00000437639.1:n.1606+218_1606+233dup
ENST00000557933.5:c.2069_2084dup ENSP00000453557.1:p.Cys696LeufsTer26
ENST00000558013.5:c.2069_2084dup ENSP00000453346.1:p.Cys696LeufsTer26
ENST00000558518.5:c.2069_2084dup ENSP00000454071.1:p.Cys696LeufsTer26
NM_000527.4:c.2069_2084dup , LRG_274t1:c.2069_2084dup NP_000518.1:p.Cys696LeufsTer26
NM_001195798.1:c.2069_2084dup NP_001182727.1:p.Cys696LeufsTer26
NM_001195799.1:c.1946_1961dup NP_001182728.1:p.Cys655LeufsTer26
NM_001195800.1:c.1565_1580dup NP_001182729.1:p.Cys528LeufsTer26
NM_001195803.1:c.1606+218_1606+233dup NP_001182732.1:n.1606+218_1606+233dup
XM_011528010.1:c.2069_2084dup XP_011526312.1:p.Cys696LeufsTer26
XM_011528011.1:c.1688_1703dup XP_011526313.1:p.Cys569LeufsTer26
XR_244074.2:n.2079_2094dup
XM_011528010.2:c.2069_2084dup XP_011526312.1:p.Cys696LeufsTer26
XR_001753685.2:n.2186_2201dup
XR_001753686.2:n.2046_2061dup
NM_000527.5:c.2069_2084dup MANE Select NP_000518.1:p.Cys696LeufsTer26
NM_001195798.2:c.2069_2084dup NP_001182727.1:p.Cys696LeufsTer26
NM_001195799.2:c.1946_1961dup NP_001182728.1:p.Cys655LeufsTer26
NM_001195800.2:c.1565_1580dup NP_001182729.1:p.Cys528LeufsTer26
NM_001195803.2:c.1606+218_1606+233dup NP_001182732.1:n.1606+218_1606+233dup