Canonical Allele Identifier: CA2322773733
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116963_11116964delinsAG , CM000681.2:g.11116963_11116964delinsAG GRCh38
NC_000019.9:g.11227639_11227640delinsAG , CM000681.1:g.11227639_11227640delinsAG GRCh37
NC_000019.8:g.11088639_11088640delinsAG NCBI36
NG_009060.1:g.32583_32584delinsAG , LRG_274:g.32583_32584delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2068_2069delinsAG ENSP00000252444.6:p.Arg690=
ENST00000559340.2:c.1705+751_1705+752delinsAG ENSP00000453696.2:n.1705+751_1705+752delinsAG
ENST00000560467.2:c.1690_1691delinsAG ENSP00000453513.2:p.Arg564=
ENST00000558518.6:c.1810_1811delinsAG MANE Select ENSP00000454071.1:p.Arg604=
ENST00000252444.9:c.2064_2065delinsAG
ENST00000455727.6:c.1306_1307delinsAG ENSP00000397829.2:p.Arg436=
ENST00000535915.5:c.1687_1688delinsAG ENSP00000440520.1:p.Arg563=
ENST00000545707.5:c.1429_1430delinsAG ENSP00000437639.1:p.Arg477=
ENST00000557933.5:c.1810_1811delinsAG ENSP00000453557.1:p.Arg604=
ENST00000558013.5:c.1810_1811delinsAG ENSP00000453346.1:p.Arg604=
ENST00000558518.5:c.1810_1811delinsAG ENSP00000454071.1:p.Arg604=
ENST00000559340.1:c.426+751_426+752delinsAG
NM_000527.4:c.1810_1811delinsAG , LRG_274t1:c.1810_1811delinsAG NP_000518.1:p.Arg604=
NM_001195798.1:c.1810_1811delinsAG NP_001182727.1:p.Arg604=
NM_001195799.1:c.1687_1688delinsAG NP_001182728.1:p.Arg563=
NM_001195800.1:c.1306_1307delinsAG NP_001182729.1:p.Arg436=
NM_001195803.1:c.1429_1430delinsAG NP_001182732.1:p.Arg477=
XM_011528010.1:c.1810_1811delinsAG XP_011526312.1:p.Arg604=
XM_011528011.1:c.1429_1430delinsAG XP_011526313.1:p.Arg477=
XR_244074.2:n.1855+751_1855+752delinsAG
XM_011528010.2:c.1810_1811delinsAG XP_011526312.1:p.Arg604=
XR_001753685.2:n.1927_1928delinsAG
XR_001753686.2:n.1822+751_1822+752delinsAG
NM_000527.5:c.1810_1811delinsAG MANE Select NP_000518.1:p.Arg604=
NM_001195798.2:c.1810_1811delinsAG NP_001182727.1:p.Arg604=
NM_001195799.2:c.1687_1688delinsAG NP_001182728.1:p.Arg563=
NM_001195800.2:c.1306_1307delinsAG NP_001182729.1:p.Arg436=
NM_001195803.2:c.1429_1430delinsAG NP_001182732.1:p.Arg477=