Canonical Allele Identifier: CA2695228155

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120119_11120121del , CM000681.2:g.11120119_11120121del	GRCh38
NC_000019.9:g.11230795_11230797del , CM000681.1:g.11230795_11230797del	GRCh37
NC_000019.8:g.11091795_11091797del	NCBI36
NG_009060.1:g.35739_35741del , LRG_274:g.35739_35741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2131_2133del	ENSP00000252444.6:p.Asn711del
ENST00000559340.2:c.1733_1735del	ENSP00000453696.2:p.Gln578del
ENST00000560467.2:c.1753_1755del	ENSP00000453513.2:p.Asn585del
ENST00000558518.6:c.1873_1875del MANE Select	ENSP00000454071.1:p.Asn625del
ENST00000252444.9:c.2127_2129del
ENST00000455727.6:c.1369_1371del	ENSP00000397829.2:p.Asn457del
ENST00000535915.5:c.1750_1752del	ENSP00000440520.1:p.Asn584del
ENST00000545707.5:c.1492_1494del	ENSP00000437639.1:p.Asn498del
ENST00000557933.5:c.1873_1875del	ENSP00000453557.1:p.Asn625del
ENST00000558013.5:c.1873_1875del	ENSP00000453346.1:p.Asn625del
ENST00000558518.5:c.1873_1875del	ENSP00000454071.1:p.Asn625del
ENST00000559340.1:c.454_456del
NM_000527.4:c.1873_1875del , LRG_274t1:c.1873_1875del	NP_000518.1:p.Asn625del
NM_001195798.1:c.1873_1875del	NP_001182727.1:p.Asn625del
NM_001195799.1:c.1750_1752del	NP_001182728.1:p.Asn584del
NM_001195800.1:c.1369_1371del	NP_001182729.1:p.Asn457del
NM_001195803.1:c.1492_1494del	NP_001182732.1:p.Asn498del
XM_011528010.1:c.1873_1875del	XP_011526312.1:p.Asn625del
XM_011528011.1:c.1492_1494del	XP_011526313.1:p.Asn498del
XR_244074.2:n.1883_1885del
XM_011528010.2:c.1873_1875del	XP_011526312.1:p.Asn625del
XR_001753685.2:n.1990_1992del
XR_001753686.2:n.1850_1852del
NM_000527.5:c.1873_1875del MANE Select	NP_000518.1:p.Asn625del
NM_001195798.2:c.1873_1875del	NP_001182727.1:p.Asn625del
NM_001195799.2:c.1750_1752del	NP_001182728.1:p.Asn584del
NM_001195800.2:c.1369_1371del	NP_001182729.1:p.Asn457del
NM_001195803.2:c.1492_1494del	NP_001182732.1:p.Asn498del