Canonical Allele Identifier: CA2322771925

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113598_11113600delinsGGC , CM000681.2:g.11113598_11113600delinsGGC	GRCh38
NC_000019.9:g.11224274_11224276delinsGGC , CM000681.1:g.11224274_11224276delinsGGC	GRCh37
NC_000019.8:g.11085274_11085276delinsGGC	NCBI36
NG_009060.1:g.29218_29220delinsGGC , LRG_274:g.29218_29220delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1680_1682delinsGGC	ENSP00000252444.6:p.Gln560=
ENST00000559340.2:c.1422_1424delinsGGC	ENSP00000453696.2:p.Gln474=
ENST00000560467.2:c.1302_1304delinsGGC	ENSP00000453513.2:p.Gln434=
ENST00000558518.6:c.1422_1424delinsGGC MANE Select	ENSP00000454071.1:p.Gln474=
ENST00000252444.9:c.1676_1678delinsGGC
ENST00000455727.6:c.918_920delinsGGC	ENSP00000397829.2:p.Gln306=
ENST00000535915.5:c.1299_1301delinsGGC	ENSP00000440520.1:p.Gln433=
ENST00000545707.5:c.1041_1043delinsGGC	ENSP00000437639.1:p.Gln347=
ENST00000557933.5:c.1422_1424delinsGGC	ENSP00000453557.1:p.Gln474=
ENST00000558013.5:c.1422_1424delinsGGC	ENSP00000453346.1:p.Gln474=
ENST00000558518.5:c.1422_1424delinsGGC	ENSP00000454071.1:p.Gln474=
ENST00000559340.1:c.143_145delinsGGC
ENST00000560467.1:c.902_904delinsGGC
NM_000527.4:c.1422_1424delinsGGC , LRG_274t1:c.1422_1424delinsGGC	NP_000518.1:p.Gln474=
NM_001195798.1:c.1422_1424delinsGGC	NP_001182727.1:p.Gln474=
NM_001195799.1:c.1299_1301delinsGGC	NP_001182728.1:p.Gln433=
NM_001195800.1:c.918_920delinsGGC	NP_001182729.1:p.Gln306=
NM_001195803.1:c.1041_1043delinsGGC	NP_001182732.1:p.Gln347=
XM_011528010.1:c.1422_1424delinsGGC	XP_011526312.1:p.Gln474=
XM_011528011.1:c.1041_1043delinsGGC	XP_011526313.1:p.Gln347=
XR_244074.2:n.1572_1574delinsGGC
XM_011528010.2:c.1422_1424delinsGGC	XP_011526312.1:p.Gln474=
XR_001753685.2:n.1539_1541delinsGGC
XR_001753686.2:n.1539_1541delinsGGC
NM_000527.5:c.1422_1424delinsGGC MANE Select	NP_000518.1:p.Gln474=
NM_001195798.2:c.1422_1424delinsGGC	NP_001182727.1:p.Gln474=
NM_001195799.2:c.1299_1301delinsGGC	NP_001182728.1:p.Gln433=
NM_001195800.2:c.918_920delinsGGC	NP_001182729.1:p.Gln306=
NM_001195803.2:c.1041_1043delinsGGC	NP_001182732.1:p.Gln347=