Canonical Allele Identifier: CA2322780294
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129597_11129598delinsAC , CM000681.2:g.11129597_11129598delinsAC GRCh38
NC_000019.9:g.11240273_11240274delinsAC , CM000681.1:g.11240273_11240274delinsAC GRCh37
NC_000019.8:g.11101273_11101274delinsAC NCBI36
NG_009060.1:g.45217_45218delinsAC , LRG_274:g.45217_45218delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2732_2733delinsAC ENSP00000252444.6:p.Asn911=
ENST00000559340.2:c.*543_*544delinsAC ENSP00000453696.2:n.*543_*544delinsAC
ENST00000560467.2:c.2354_2355delinsAC ENSP00000453513.2:p.Asn785=
ENST00000558518.6:c.2474_2475delinsAC MANE Select ENSP00000454071.1:p.Asn825=
ENST00000252444.9:c.2728_2729delinsAC
ENST00000455727.6:c.1970_1971delinsAC ENSP00000397829.2:p.Asn657=
ENST00000535915.5:c.2351_2352delinsAC ENSP00000440520.1:p.Asn784=
ENST00000545707.5:c.1940_1941delinsAC ENSP00000437639.1:p.Asn647=
ENST00000557933.5:c.2536_2537delinsAC ENSP00000453557.1:p.Thr846=
ENST00000558013.5:c.2474_2475delinsAC ENSP00000453346.1:p.Asn825=
ENST00000558518.5:c.2474_2475delinsAC ENSP00000454071.1:p.Asn825=
ENST00000560628.1:n.108+1943_108+1944delinsAC
NM_000527.4:c.2474_2475delinsAC , LRG_274t1:c.2474_2475delinsAC NP_000518.1:p.Asn825=
NM_001195798.1:c.2474_2475delinsAC NP_001182727.1:p.Asn825=
NM_001195799.1:c.2351_2352delinsAC NP_001182728.1:p.Asn784=
NM_001195800.1:c.1970_1971delinsAC NP_001182729.1:p.Asn657=
NM_001195803.1:c.1940_1941delinsAC NP_001182732.1:p.Asn647=
XM_011528010.1:c.2396_2397delinsAC XP_011526312.1:p.Asn799=
XM_011528011.1:c.2093_2094delinsAC XP_011526313.1:p.Asn698=
XM_011528010.2:c.2396_2397delinsAC XP_011526312.1:p.Asn799=
XR_001753685.2:n.2808_2809delinsAC
XR_001753686.2:n.2451_2452delinsAC
NM_000527.5:c.2474_2475delinsAC MANE Select NP_000518.1:p.Asn825=
NM_001195798.2:c.2474_2475delinsAC NP_001182727.1:p.Asn825=
NM_001195799.2:c.2351_2352delinsAC NP_001182728.1:p.Asn784=
NM_001195800.2:c.1970_1971delinsAC NP_001182729.1:p.Asn657=
NM_001195803.2:c.1940_1941delinsAC NP_001182732.1:p.Asn647=