Canonical Allele Identifier: CA2322779531

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128036_11128041delinsTGAGAA , CM000681.2:g.11128036_11128041delinsTGAGAA	GRCh38
NC_000019.9:g.11238712_11238717delinsTGAGAA , CM000681.1:g.11238712_11238717delinsTGAGAA	GRCh37
NC_000019.8:g.11099712_11099717delinsTGAGAA	NCBI36
NG_009060.1:g.43656_43661delinsTGAGAA , LRG_274:g.43656_43661delinsTGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2598_2603delinsTGAGAA	ENSP00000252444.6:p.Asn866=
ENST00000559340.2:c.*409_*414delinsTGAGAA	ENSP00000453696.2:n.*409_*414delinsTGAGAA
ENST00000560467.2:c.2220_2225delinsTGAGAA	ENSP00000453513.2:p.Asn740=
ENST00000558518.6:c.2340_2345delinsTGAGAA MANE Select	ENSP00000454071.1:p.Asn780=
ENST00000252444.9:c.2594_2599delinsTGAGAA
ENST00000455727.6:c.1836_1841delinsTGAGAA	ENSP00000397829.2:p.Asn612=
ENST00000535915.5:c.2217_2222delinsTGAGAA	ENSP00000440520.1:p.Asn739=
ENST00000545707.5:c.1806_1811delinsTGAGAA	ENSP00000437639.1:p.Asn602=
ENST00000557933.5:c.2340_2345delinsTGAGAA	ENSP00000453557.1:p.Asn780=
ENST00000558013.5:c.2340_2345delinsTGAGAA	ENSP00000453346.1:p.Asn780=
ENST00000558518.5:c.2340_2345delinsTGAGAA	ENSP00000454071.1:p.Asn780=
ENST00000560628.1:n.108+382_108+387delinsTGAGAA
NM_000527.4:c.2340_2345delinsTGAGAA , LRG_274t1:c.2340_2345delinsTGAGAA	NP_000518.1:p.Asn780=
NM_001195798.1:c.2340_2345delinsTGAGAA	NP_001182727.1:p.Asn780=
NM_001195799.1:c.2217_2222delinsTGAGAA	NP_001182728.1:p.Asn739=
NM_001195800.1:c.1836_1841delinsTGAGAA	NP_001182729.1:p.Asn612=
NM_001195803.1:c.1806_1811delinsTGAGAA	NP_001182732.1:p.Asn602=
XM_011528010.1:c.2312-1477_2312-1472delinsTGAGAA	XP_011526312.1:n.2312-1477_2312-1472delinsTGAGAA
XM_011528011.1:c.1959_1964delinsTGAGAA	XP_011526313.1:p.Asn653=
XR_244074.2:n.2350_2355delinsTGAGAA
XM_011528010.2:c.2312-1477_2312-1472delinsTGAGAA	XP_011526312.1:n.2312-1477_2312-1472delinsTGAGAA
XR_001753685.2:n.2674_2679delinsTGAGAA
XR_001753686.2:n.2317_2322delinsTGAGAA
NM_000527.5:c.2340_2345delinsTGAGAA MANE Select	NP_000518.1:p.Asn780=
NM_001195798.2:c.2340_2345delinsTGAGAA	NP_001182727.1:p.Asn780=
NM_001195799.2:c.2217_2222delinsTGAGAA	NP_001182728.1:p.Asn739=
NM_001195800.2:c.1836_1841delinsTGAGAA	NP_001182729.1:p.Asn612=
NM_001195803.2:c.1806_1811delinsTGAGAA	NP_001182732.1:p.Asn602=