Canonical Allele Identifier: CA2322777182
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123209_11123210delinsAC , CM000681.2:g.11123209_11123210delinsAC GRCh38
NC_000019.9:g.11233885_11233886delinsAC , CM000681.1:g.11233885_11233886delinsAC GRCh37
NC_000019.8:g.11094885_11094886delinsAC NCBI36
NG_009060.1:g.38829_38830delinsAC , LRG_274:g.38829_38830delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2434_2435delinsAC ENSP00000252444.6:p.Thr812=
ENST00000559340.2:c.*245_*246delinsAC ENSP00000453696.2:n.*245_*246delinsAC
ENST00000560467.2:c.2056_2057delinsAC ENSP00000453513.2:p.Thr686=
ENST00000558518.6:c.2176_2177delinsAC MANE Select ENSP00000454071.1:p.Thr726=
ENST00000252444.9:c.2430_2431delinsAC
ENST00000455727.6:c.1672_1673delinsAC ENSP00000397829.2:p.Thr558=
ENST00000535915.5:c.2053_2054delinsAC ENSP00000440520.1:p.Thr685=
ENST00000545707.5:c.1642_1643delinsAC ENSP00000437639.1:p.Thr548=
ENST00000557933.5:c.2176_2177delinsAC ENSP00000453557.1:p.Thr726=
ENST00000558013.5:c.2176_2177delinsAC ENSP00000453346.1:p.Thr726=
ENST00000558518.5:c.2176_2177delinsAC ENSP00000454071.1:p.Thr726=
NM_000527.4:c.2176_2177delinsAC , LRG_274t1:c.2176_2177delinsAC NP_000518.1:p.Thr726=
NM_001195798.1:c.2176_2177delinsAC NP_001182727.1:p.Thr726=
NM_001195799.1:c.2053_2054delinsAC NP_001182728.1:p.Thr685=
NM_001195800.1:c.1672_1673delinsAC NP_001182729.1:p.Thr558=
NM_001195803.1:c.1642_1643delinsAC NP_001182732.1:p.Thr548=
XM_011528010.1:c.2176_2177delinsAC XP_011526312.1:p.Thr726=
XM_011528011.1:c.1795_1796delinsAC XP_011526313.1:p.Thr599=
XR_244074.2:n.2186_2187delinsAC
XM_011528010.2:c.2176_2177delinsAC XP_011526312.1:p.Thr726=
XR_001753685.2:n.2510_2511delinsAC
XR_001753686.2:n.2153_2154delinsAC
NM_000527.5:c.2176_2177delinsAC MANE Select NP_000518.1:p.Thr726=
NM_001195798.2:c.2176_2177delinsAC NP_001182727.1:p.Thr726=
NM_001195799.2:c.2053_2054delinsAC NP_001182728.1:p.Thr685=
NM_001195800.2:c.1672_1673delinsAC NP_001182729.1:p.Thr558=
NM_001195803.2:c.1642_1643delinsAC NP_001182732.1:p.Thr548=