Canonical Allele Identifier: CA2322771694
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113294_11113296delinsCTT , CM000681.2:g.11113294_11113296delinsCTT GRCh38
NC_000019.9:g.11223970_11223972delinsCTT , CM000681.1:g.11223970_11223972delinsCTT GRCh37
NC_000019.8:g.11084970_11084972delinsCTT NCBI36
NG_009060.1:g.28914_28916delinsCTT , LRG_274:g.28914_28916delinsCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1461_1463delinsCTT ENSP00000252444.6:p.Leu487=
ENST00000559340.2:c.1203_1205delinsCTT ENSP00000453696.2:p.Leu401=
ENST00000560467.2:c.1083_1085delinsCTT ENSP00000453513.2:p.Leu361=
ENST00000558518.6:c.1203_1205delinsCTT MANE Select ENSP00000454071.1:p.Leu401=
ENST00000252444.9:c.1457_1459delinsCTT
ENST00000455727.6:c.699_701delinsCTT ENSP00000397829.2:p.Leu233=
ENST00000535915.5:c.1080_1082delinsCTT ENSP00000440520.1:p.Leu360=
ENST00000545707.5:c.822_824delinsCTT ENSP00000437639.1:p.Leu274=
ENST00000557933.5:c.1203_1205delinsCTT ENSP00000453557.1:p.Leu401=
ENST00000558013.5:c.1203_1205delinsCTT ENSP00000453346.1:p.Leu401=
ENST00000558518.5:c.1203_1205delinsCTT ENSP00000454071.1:p.Leu401=
ENST00000560173.1:n.202_204delinsCTT
ENST00000560467.1:c.683_685delinsCTT
NM_000527.4:c.1203_1205delinsCTT , LRG_274t1:c.1203_1205delinsCTT NP_000518.1:p.Leu401=
NM_001195798.1:c.1203_1205delinsCTT NP_001182727.1:p.Leu401=
NM_001195799.1:c.1080_1082delinsCTT NP_001182728.1:p.Leu360=
NM_001195800.1:c.699_701delinsCTT NP_001182729.1:p.Leu233=
NM_001195803.1:c.822_824delinsCTT NP_001182732.1:p.Leu274=
XM_011528010.1:c.1203_1205delinsCTT XP_011526312.1:p.Leu401=
XM_011528011.1:c.822_824delinsCTT XP_011526313.1:p.Leu274=
XR_244074.2:n.1353_1355delinsCTT
XM_011528010.2:c.1203_1205delinsCTT XP_011526312.1:p.Leu401=
XR_001753685.2:n.1320_1322delinsCTT
XR_001753686.2:n.1320_1322delinsCTT
NM_000527.5:c.1203_1205delinsCTT MANE Select NP_000518.1:p.Leu401=
NM_001195798.2:c.1203_1205delinsCTT NP_001182727.1:p.Leu401=
NM_001195799.2:c.1080_1082delinsCTT NP_001182728.1:p.Leu360=
NM_001195800.2:c.699_701delinsCTT NP_001182729.1:p.Leu233=
NM_001195803.2:c.822_824delinsCTT NP_001182732.1:p.Leu274=