Canonical Allele Identifier: CA993533714

Gene: LDLR

Linked Data

• gnomAD v3: 19-11107132-A-ATTTTTTTTT
• gnomAD v4: 19-11107132-A-ATTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107139_11107140insTTTTTTTTT , CM000681.2:g.11107139_11107140insTTTTTTTTT	GRCh38
NC_000019.9:g.11217815_11217816insTTTTTTTTT , CM000681.1:g.11217815_11217816insTTTTTTTTT	GRCh37
NC_000019.8:g.11078815_11078816insTTTTTTTTT	NCBI36
NG_009060.1:g.22759_22760insTTTTTTTTT , LRG_274:g.22759_22760insTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1076-253_1076-252insTTTTTTTTT	ENSP00000252444.6:n.1076-253_1076-252insTTTTTTTTT
ENST00000559340.2:c.818-253_818-252insTTTTTTTTT	ENSP00000453696.2:n.818-253_818-252insTTTTTTTTT
ENST00000560467.2:c.818-253_818-252insTTTTTTTTT	ENSP00000453513.2:n.818-253_818-252insTTTTTTTTT
ENST00000558518.6:c.818-253_818-252insTTTTTTTTT MANE Select	ENSP00000454071.1:n.818-253_818-252insTTTTTTTTT
ENST00000252444.9:c.1072-253_1072-252insTTTTTTTTT
ENST00000455727.6:c.314-253_314-252insTTTTTTTTT	ENSP00000397829.2:n.314-253_314-252insTTTTTTTTT
ENST00000535915.5:c.695-253_695-252insTTTTTTTTT	ENSP00000440520.1:n.695-253_695-252insTTTTTTTTT
ENST00000545707.5:c.437-253_437-252insTTTTTTTTT	ENSP00000437639.1:n.437-253_437-252insTTTTTTTTT
ENST00000557933.5:c.818-253_818-252insTTTTTTTTT	ENSP00000453557.1:n.818-253_818-252insTTTTTTTTT
ENST00000558013.5:c.818-253_818-252insTTTTTTTTT	ENSP00000453346.1:n.818-253_818-252insTTTTTTTTT
ENST00000558518.5:c.818-253_818-252insTTTTTTTTT	ENSP00000454071.1:n.818-253_818-252insTTTTTTTTT
ENST00000558528.1:n.333-253_333-252insTTTTTTTTT
ENST00000560467.1:c.418-253_418-252insTTTTTTTTT
NM_000527.4:c.818-253_818-252insTTTTTTTTT , LRG_274t1:c.818-253_818-252insTTTTTTTTT	NP_000518.1:n.818-253_818-252insTTTTTTTTT
NM_001195798.1:c.818-253_818-252insTTTTTTTTT	NP_001182727.1:n.818-253_818-252insTTTTTTTTT
NM_001195799.1:c.695-253_695-252insTTTTTTTTT	NP_001182728.1:n.695-253_695-252insTTTTTTTTT
NM_001195800.1:c.314-253_314-252insTTTTTTTTT	NP_001182729.1:n.314-253_314-252insTTTTTTTTT
NM_001195803.1:c.437-253_437-252insTTTTTTTTT	NP_001182732.1:n.437-253_437-252insTTTTTTTTT
XM_011528010.1:c.818-253_818-252insTTTTTTTTT	XP_011526312.1:n.818-253_818-252insTTTTTTTTT
XM_011528011.1:c.437-253_437-252insTTTTTTTTT	XP_011526313.1:n.437-253_437-252insTTTTTTTTT
XR_244074.2:n.968-253_968-252insTTTTTTTTT
XM_011528010.2:c.818-253_818-252insTTTTTTTTT	XP_011526312.1:n.818-253_818-252insTTTTTTTTT
XR_001753685.2:n.935-253_935-252insTTTTTTTTT
XR_001753686.2:n.935-253_935-252insTTTTTTTTT
NM_000527.5:c.818-253_818-252insTTTTTTTTT MANE Select	NP_000518.1:n.818-253_818-252insTTTTTTTTT
NM_001195798.2:c.818-253_818-252insTTTTTTTTT	NP_001182727.1:n.818-253_818-252insTTTTTTTTT
NM_001195799.2:c.695-253_695-252insTTTTTTTTT	NP_001182728.1:n.695-253_695-252insTTTTTTTTT
NM_001195800.2:c.314-253_314-252insTTTTTTTTT	NP_001182729.1:n.314-253_314-252insTTTTTTTTT
NM_001195803.2:c.437-253_437-252insTTTTTTTTT	NP_001182732.1:n.437-253_437-252insTTTTTTTTT