Canonical Allele Identifier: CA2322773606

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116801_11116802delinsAG , CM000681.2:g.11116801_11116802delinsAG	GRCh38
NC_000019.9:g.11227477_11227478delinsAG , CM000681.1:g.11227477_11227478delinsAG	GRCh37
NC_000019.8:g.11088477_11088478delinsAG	NCBI36
NG_009060.1:g.32421_32422delinsAG , LRG_274:g.32421_32422delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1964-58_1964-57delinsAG	ENSP00000252444.6:n.1964-58_1964-57delins...
ENST00000559340.2:c.1705+589_1705+590delinsAG	ENSP00000453696.2:n.1705+589_1705+590deli...
ENST00000560467.2:c.1586-58_1586-57delinsAG	ENSP00000453513.2:n.1586-58_1586-57delins...
ENST00000558518.6:c.1706-58_1706-57delinsAG MANE Select	ENSP00000454071.1:n.1706-58_1706-57delins...
ENST00000252444.9:c.1960-58_1960-57delinsAG
ENST00000455727.6:c.1202-58_1202-57delinsAG	ENSP00000397829.2:n.1202-58_1202-57delins...
ENST00000535915.5:c.1583-58_1583-57delinsAG	ENSP00000440520.1:n.1583-58_1583-57delins...
ENST00000545707.5:c.1325-58_1325-57delinsAG	ENSP00000437639.1:n.1325-58_1325-57delins...
ENST00000557933.5:c.1706-58_1706-57delinsAG	ENSP00000453557.1:n.1706-58_1706-57delins...
ENST00000558013.5:c.1706-58_1706-57delinsAG	ENSP00000453346.1:n.1706-58_1706-57delins...
ENST00000558518.5:c.1706-58_1706-57delinsAG	ENSP00000454071.1:n.1706-58_1706-57delins...
ENST00000559340.1:c.426+589_426+590delinsAG
NM_000527.4:c.1706-58_1706-57delinsAG , LRG_274t1:c.1706-58_1706-57delinsAG	NP_000518.1:n.1706-58_1706-57delinsAG
NM_001195798.1:c.1706-58_1706-57delinsAG	NP_001182727.1:n.1706-58_1706-57delinsAG
NM_001195799.1:c.1583-58_1583-57delinsAG	NP_001182728.1:n.1583-58_1583-57delinsAG
NM_001195800.1:c.1202-58_1202-57delinsAG	NP_001182729.1:n.1202-58_1202-57delinsAG
NM_001195803.1:c.1325-58_1325-57delinsAG	NP_001182732.1:n.1325-58_1325-57delinsAG
XM_011528010.1:c.1706-58_1706-57delinsAG	XP_011526312.1:n.1706-58_1706-57delinsAG
XM_011528011.1:c.1325-58_1325-57delinsAG	XP_011526313.1:n.1325-58_1325-57delinsAG
XR_244074.2:n.1855+589_1855+590delinsAG
XM_011528010.2:c.1706-58_1706-57delinsAG	XP_011526312.1:n.1706-58_1706-57delinsAG
XR_001753685.2:n.1823-58_1823-57delinsAG
XR_001753686.2:n.1822+589_1822+590delinsAG
NM_000527.5:c.1706-58_1706-57delinsAG MANE Select	NP_000518.1:n.1706-58_1706-57delinsAG
NM_001195798.2:c.1706-58_1706-57delinsAG	NP_001182727.1:n.1706-58_1706-57delinsAG
NM_001195799.2:c.1583-58_1583-57delinsAG	NP_001182728.1:n.1583-58_1583-57delinsAG
NM_001195800.2:c.1202-58_1202-57delinsAG	NP_001182729.1:n.1202-58_1202-57delinsAG
NM_001195803.2:c.1325-58_1325-57delinsAG	NP_001182732.1:n.1325-58_1325-57delinsAG