Canonical Allele Identifier: CA2322775594
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120437_11120450delinsGCAGATCAACCCCC , CM000681.2:g.11120437_11120450delinsGCAGATCAACCCCC GRCh38
NC_000019.9:g.11231113_11231126delinsGCAGATCAACCCCC , CM000681.1:g.11231113_11231126delinsGCAGATCAACCCCC GRCh37
NC_000019.8:g.11092113_11092126delinsGCAGATCAACCCCC NCBI36
NG_009060.1:g.36057_36070delinsGCAGATCAACCCCC , LRG_274:g.36057_36070delinsGCAGATCAACCCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2313_2326delinsGCAGATCAACCCCC ENSP00000252444.6:p.Pro771=
ENST00000559340.2:c.*124_*137delinsGCAGATCAACCCCC ENSP00000453696.2:n.*124_*137delinsGCAGAT...
ENST00000560467.2:c.1935_1948delinsGCAGATCAACCCCC ENSP00000453513.2:p.Pro645=
ENST00000558518.6:c.2055_2068delinsGCAGATCAACCCCC MANE Select ENSP00000454071.1:p.Pro685=
ENST00000252444.9:c.2309_2322delinsGCAGATCAACCCCC
ENST00000455727.6:c.1551_1564delinsGCAGATCAACCCCC ENSP00000397829.2:p.Pro517=
ENST00000535915.5:c.1932_1945delinsGCAGATCAACCCCC ENSP00000440520.1:p.Pro644=
ENST00000545707.5:c.1606+204_1606+217delinsGCAGATCAACCCCC ENSP00000437639.1:n.1606+204_1606+217deli...
ENST00000557933.5:c.2055_2068delinsGCAGATCAACCCCC ENSP00000453557.1:p.Pro685=
ENST00000558013.5:c.2055_2068delinsGCAGATCAACCCCC ENSP00000453346.1:p.Pro685=
ENST00000558518.5:c.2055_2068delinsGCAGATCAACCCCC ENSP00000454071.1:p.Pro685=
NM_000527.4:c.2055_2068delinsGCAGATCAACCCCC , LRG_274t1:c.2055_2068delinsGCAGATCAACCCCC NP_000518.1:p.Pro685=
NM_001195798.1:c.2055_2068delinsGCAGATCAACCCCC NP_001182727.1:p.Pro685=
NM_001195799.1:c.1932_1945delinsGCAGATCAACCCCC NP_001182728.1:p.Pro644=
NM_001195800.1:c.1551_1564delinsGCAGATCAACCCCC NP_001182729.1:p.Pro517=
NM_001195803.1:c.1606+204_1606+217delinsGCAGATCAACCCCC NP_001182732.1:n.1606+204_1606+217delinsG...
XM_011528010.1:c.2055_2068delinsGCAGATCAACCCCC XP_011526312.1:p.Pro685=
XM_011528011.1:c.1674_1687delinsGCAGATCAACCCCC XP_011526313.1:p.Pro558=
XR_244074.2:n.2065_2078delinsGCAGATCAACCCCC
XM_011528010.2:c.2055_2068delinsGCAGATCAACCCCC XP_011526312.1:p.Pro685=
XR_001753685.2:n.2172_2185delinsGCAGATCAACCCCC
XR_001753686.2:n.2032_2045delinsGCAGATCAACCCCC
NM_000527.5:c.2055_2068delinsGCAGATCAACCCCC MANE Select NP_000518.1:p.Pro685=
NM_001195798.2:c.2055_2068delinsGCAGATCAACCCCC NP_001182727.1:p.Pro685=
NM_001195799.2:c.1932_1945delinsGCAGATCAACCCCC NP_001182728.1:p.Pro644=
NM_001195800.2:c.1551_1564delinsGCAGATCAACCCCC NP_001182729.1:p.Pro517=
NM_001195803.2:c.1606+204_1606+217delinsGCAGATCAACCCCC NP_001182732.1:n.1606+204_1606+217delinsG...