Canonical Allele Identifier: CA2322772044

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113742_11113751delinsCGTGGTGGAT , CM000681.2:g.11113742_11113751delinsCGTGGTGGAT	GRCh38
NC_000019.9:g.11224418_11224427delinsCGTGGTGGAT , CM000681.1:g.11224418_11224427delinsCGTGGTGGAT	GRCh37
NC_000019.8:g.11085418_11085427delinsCGTGGTGGAT	NCBI36
NG_009060.1:g.29362_29371delinsCGTGGTGGAT , LRG_274:g.29362_29371delinsCGTGGTGGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1824_1833delinsCGTGGTGGAT	ENSP00000252444.6:p.Ile608=
ENST00000559340.2:c.1566_1575delinsCGTGGTGGAT	ENSP00000453696.2:p.Ile522=
ENST00000560467.2:c.1446_1455delinsCGTGGTGGAT	ENSP00000453513.2:p.Ile482=
ENST00000558518.6:c.1566_1575delinsCGTGGTGGAT MANE Select	ENSP00000454071.1:p.Ile522=
ENST00000252444.9:c.1820_1829delinsCGTGGTGGAT
ENST00000455727.6:c.1062_1071delinsCGTGGTGGAT	ENSP00000397829.2:p.Ile354=
ENST00000535915.5:c.1443_1452delinsCGTGGTGGAT	ENSP00000440520.1:p.Ile481=
ENST00000545707.5:c.1185_1194delinsCGTGGTGGAT	ENSP00000437639.1:p.Ile395=
ENST00000557933.5:c.1566_1575delinsCGTGGTGGAT	ENSP00000453557.1:p.Ile522=
ENST00000558013.5:c.1566_1575delinsCGTGGTGGAT	ENSP00000453346.1:p.Ile522=
ENST00000558518.5:c.1566_1575delinsCGTGGTGGAT	ENSP00000454071.1:p.Ile522=
ENST00000559340.1:c.287_296delinsCGTGGTGGAT
NM_000527.4:c.1566_1575delinsCGTGGTGGAT , LRG_274t1:c.1566_1575delinsCGTGGTGGAT	NP_000518.1:p.Ile522=
NM_001195798.1:c.1566_1575delinsCGTGGTGGAT	NP_001182727.1:p.Ile522=
NM_001195799.1:c.1443_1452delinsCGTGGTGGAT	NP_001182728.1:p.Ile481=
NM_001195800.1:c.1062_1071delinsCGTGGTGGAT	NP_001182729.1:p.Ile354=
NM_001195803.1:c.1185_1194delinsCGTGGTGGAT	NP_001182732.1:p.Ile395=
XM_011528010.1:c.1566_1575delinsCGTGGTGGAT	XP_011526312.1:p.Ile522=
XM_011528011.1:c.1185_1194delinsCGTGGTGGAT	XP_011526313.1:p.Ile395=
XR_244074.2:n.1716_1725delinsCGTGGTGGAT
XM_011528010.2:c.1566_1575delinsCGTGGTGGAT	XP_011526312.1:p.Ile522=
XR_001753685.2:n.1683_1692delinsCGTGGTGGAT
XR_001753686.2:n.1683_1692delinsCGTGGTGGAT
NM_000527.5:c.1566_1575delinsCGTGGTGGAT MANE Select	NP_000518.1:p.Ile522=
NM_001195798.2:c.1566_1575delinsCGTGGTGGAT	NP_001182727.1:p.Ile522=
NM_001195799.2:c.1443_1452delinsCGTGGTGGAT	NP_001182728.1:p.Ile481=
NM_001195800.2:c.1062_1071delinsCGTGGTGGAT	NP_001182729.1:p.Ile354=
NM_001195803.2:c.1185_1194delinsCGTGGTGGAT	NP_001182732.1:p.Ile395=