Canonical Allele Identifier: CA2322771795

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113420_11113421delinsGT , CM000681.2:g.11113420_11113421delinsGT	GRCh38
NC_000019.9:g.11224096_11224097delinsGT , CM000681.1:g.11224096_11224097delinsGT	GRCh37
NC_000019.8:g.11085096_11085097delinsGT	NCBI36
NG_009060.1:g.29040_29041delinsGT , LRG_274:g.29040_29041delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1587_1588delinsGT	ENSP00000252444.6:p.Trp529=
ENST00000559340.2:c.1329_1330delinsGT	ENSP00000453696.2:p.Trp443=
ENST00000560467.2:c.1209_1210delinsGT	ENSP00000453513.2:p.Trp403=
ENST00000558518.6:c.1329_1330delinsGT MANE Select	ENSP00000454071.1:p.Trp443=
ENST00000252444.9:c.1583_1584delinsGT
ENST00000455727.6:c.825_826delinsGT	ENSP00000397829.2:p.Trp275=
ENST00000535915.5:c.1206_1207delinsGT	ENSP00000440520.1:p.Trp402=
ENST00000545707.5:c.948_949delinsGT	ENSP00000437639.1:p.Trp316=
ENST00000557933.5:c.1329_1330delinsGT	ENSP00000453557.1:p.Trp443=
ENST00000558013.5:c.1329_1330delinsGT	ENSP00000453346.1:p.Trp443=
ENST00000558518.5:c.1329_1330delinsGT	ENSP00000454071.1:p.Trp443=
ENST00000559340.1:c.50_51delinsGT
ENST00000560173.1:n.328_329delinsGT
ENST00000560467.1:c.809_810delinsGT
NM_000527.4:c.1329_1330delinsGT , LRG_274t1:c.1329_1330delinsGT	NP_000518.1:p.Trp443=
NM_001195798.1:c.1329_1330delinsGT	NP_001182727.1:p.Trp443=
NM_001195799.1:c.1206_1207delinsGT	NP_001182728.1:p.Trp402=
NM_001195800.1:c.825_826delinsGT	NP_001182729.1:p.Trp275=
NM_001195803.1:c.948_949delinsGT	NP_001182732.1:p.Trp316=
XM_011528010.1:c.1329_1330delinsGT	XP_011526312.1:p.Trp443=
XM_011528011.1:c.948_949delinsGT	XP_011526313.1:p.Trp316=
XR_244074.2:n.1479_1480delinsGT
XM_011528010.2:c.1329_1330delinsGT	XP_011526312.1:p.Trp443=
XR_001753685.2:n.1446_1447delinsGT
XR_001753686.2:n.1446_1447delinsGT
NM_000527.5:c.1329_1330delinsGT MANE Select	NP_000518.1:p.Trp443=
NM_001195798.2:c.1329_1330delinsGT	NP_001182727.1:p.Trp443=
NM_001195799.2:c.1206_1207delinsGT	NP_001182728.1:p.Trp402=
NM_001195800.2:c.825_826delinsGT	NP_001182729.1:p.Trp275=
NM_001195803.2:c.948_949delinsGT	NP_001182732.1:p.Trp316=