Canonical Allele Identifier: CA2322770696
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111520_11111521delinsAT , CM000681.2:g.11111520_11111521delinsAT GRCh38
NC_000019.9:g.11222196_11222197delinsAT , CM000681.1:g.11222196_11222197delinsAT GRCh37
NC_000019.8:g.11083196_11083197delinsAT NCBI36
NG_009060.1:g.27140_27141delinsAT , LRG_274:g.27140_27141delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1325_1326delinsAT ENSP00000252444.6:p.Asp442=
ENST00000559340.2:c.1067_1068delinsAT ENSP00000453696.2:p.Asp356=
ENST00000560467.2:c.947_948delinsAT ENSP00000453513.2:p.Asp316=
ENST00000558518.6:c.1067_1068delinsAT MANE Select ENSP00000454071.1:p.Asp356=
ENST00000252444.9:c.1321_1322delinsAT
ENST00000455727.6:c.563_564delinsAT ENSP00000397829.2:p.Asp188=
ENST00000535915.5:c.944_945delinsAT ENSP00000440520.1:p.Asp315=
ENST00000545707.5:c.686_687delinsAT ENSP00000437639.1:p.Asp229=
ENST00000557933.5:c.1067_1068delinsAT ENSP00000453557.1:p.Asp356=
ENST00000558013.5:c.1067_1068delinsAT ENSP00000453346.1:p.Asp356=
ENST00000558518.5:c.1067_1068delinsAT ENSP00000454071.1:p.Asp356=
ENST00000560173.1:n.66_67delinsAT
ENST00000560467.1:c.547_548delinsAT
NM_000527.4:c.1067_1068delinsAT , LRG_274t1:c.1067_1068delinsAT NP_000518.1:p.Asp356=
NM_001195798.1:c.1067_1068delinsAT NP_001182727.1:p.Asp356=
NM_001195799.1:c.944_945delinsAT NP_001182728.1:p.Asp315=
NM_001195800.1:c.563_564delinsAT NP_001182729.1:p.Asp188=
NM_001195803.1:c.686_687delinsAT NP_001182732.1:p.Asp229=
XM_011528010.1:c.1067_1068delinsAT XP_011526312.1:p.Asp356=
XM_011528011.1:c.686_687delinsAT XP_011526313.1:p.Asp229=
XR_244074.2:n.1217_1218delinsAT
XM_011528010.2:c.1067_1068delinsAT XP_011526312.1:p.Asp356=
XR_001753685.2:n.1184_1185delinsAT
XR_001753686.2:n.1184_1185delinsAT
NM_000527.5:c.1067_1068delinsAT MANE Select NP_000518.1:p.Asp356=
NM_001195798.2:c.1067_1068delinsAT NP_001182727.1:p.Asp356=
NM_001195799.2:c.944_945delinsAT NP_001182728.1:p.Asp315=
NM_001195800.2:c.563_564delinsAT NP_001182729.1:p.Asp188=
NM_001195803.2:c.686_687delinsAT NP_001182732.1:p.Asp229=