Canonical Allele Identifier: CA2322775627

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120473_11120474delinsCT , CM000681.2:g.11120473_11120474delinsCT	GRCh38
NC_000019.9:g.11231149_11231150delinsCT , CM000681.1:g.11231149_11231150delinsCT	GRCh37
NC_000019.8:g.11092149_11092150delinsCT	NCBI36
NG_009060.1:g.36093_36094delinsCT , LRG_274:g.36093_36094delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2349_2350delinsCT	ENSP00000252444.6:p.Ala783=
ENST00000559340.2:c.*160_*161delinsCT	ENSP00000453696.2:n.*160_*161delinsCT
ENST00000560467.2:c.1971_1972delinsCT	ENSP00000453513.2:p.Ala657=
ENST00000558518.6:c.2091_2092delinsCT MANE Select	ENSP00000454071.1:p.Ala697=
ENST00000252444.9:c.2345_2346delinsCT
ENST00000455727.6:c.1587_1588delinsCT	ENSP00000397829.2:p.Ala529=
ENST00000535915.5:c.1968_1969delinsCT	ENSP00000440520.1:p.Ala656=
ENST00000545707.5:c.1606+240_1606+241delinsCT	ENSP00000437639.1:n.1606+240_1606+241delinsCT
ENST00000557933.5:c.2091_2092delinsCT	ENSP00000453557.1:p.Ala697=
ENST00000558013.5:c.2091_2092delinsCT	ENSP00000453346.1:p.Ala697=
ENST00000558518.5:c.2091_2092delinsCT	ENSP00000454071.1:p.Ala697=
NM_000527.4:c.2091_2092delinsCT , LRG_274t1:c.2091_2092delinsCT	NP_000518.1:p.Ala697=
NM_001195798.1:c.2091_2092delinsCT	NP_001182727.1:p.Ala697=
NM_001195799.1:c.1968_1969delinsCT	NP_001182728.1:p.Ala656=
NM_001195800.1:c.1587_1588delinsCT	NP_001182729.1:p.Ala529=
NM_001195803.1:c.1606+240_1606+241delinsCT	NP_001182732.1:n.1606+240_1606+241delinsCT
XM_011528010.1:c.2091_2092delinsCT	XP_011526312.1:p.Ala697=
XM_011528011.1:c.1710_1711delinsCT	XP_011526313.1:p.Ala570=
XR_244074.2:n.2101_2102delinsCT
XM_011528010.2:c.2091_2092delinsCT	XP_011526312.1:p.Ala697=
XR_001753685.2:n.2208_2209delinsCT
XR_001753686.2:n.2068_2069delinsCT
NM_000527.5:c.2091_2092delinsCT MANE Select	NP_000518.1:p.Ala697=
NM_001195798.2:c.2091_2092delinsCT	NP_001182727.1:p.Ala697=
NM_001195799.2:c.1968_1969delinsCT	NP_001182728.1:p.Ala656=
NM_001195800.2:c.1587_1588delinsCT	NP_001182729.1:p.Ala529=
NM_001195803.2:c.1606+240_1606+241delinsCT	NP_001182732.1:n.1606+240_1606+241delinsCT