Canonical Allele Identifier: CA2322775581

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120431_11120445delinsTGCCCCGCAGATCAA , CM000681.2:g.11120431_11120445delinsTGCCCCGCAGATCAA	GRCh38
NC_000019.9:g.11231107_11231121delinsTGCCCCGCAGATCAA , CM000681.1:g.11231107_11231121delinsTGCCCCGCAGATCAA	GRCh37
NC_000019.8:g.11092107_11092121delinsTGCCCCGCAGATCAA	NCBI36
NG_009060.1:g.36051_36065delinsTGCCCCGCAGATCAA , LRG_274:g.36051_36065delinsTGCCCCGCAGATCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2307_2321delinsTGCCCCGCAGATCAA	ENSP00000252444.6:p.Pro769=
ENST00000559340.2:c.*118_*132delinsTGCCCCGCAGATCAA	ENSP00000453696.2:n.*118_*132delinsTGCCCC...
ENST00000560467.2:c.1929_1943delinsTGCCCCGCAGATCAA	ENSP00000453513.2:p.Pro643=
ENST00000558518.6:c.2049_2063delinsTGCCCCGCAGATCAA MANE Select	ENSP00000454071.1:p.Pro683=
ENST00000252444.9:c.2303_2317delinsTGCCCCGCAGATCAA
ENST00000455727.6:c.1545_1559delinsTGCCCCGCAGATCAA	ENSP00000397829.2:p.Pro515=
ENST00000535915.5:c.1926_1940delinsTGCCCCGCAGATCAA	ENSP00000440520.1:p.Pro642=
ENST00000545707.5:c.1606+198_1606+212delinsTGCCCCGCAGATCAA	ENSP00000437639.1:n.1606+198_1606+212deli...
ENST00000557933.5:c.2049_2063delinsTGCCCCGCAGATCAA	ENSP00000453557.1:p.Pro683=
ENST00000558013.5:c.2049_2063delinsTGCCCCGCAGATCAA	ENSP00000453346.1:p.Pro683=
ENST00000558518.5:c.2049_2063delinsTGCCCCGCAGATCAA	ENSP00000454071.1:p.Pro683=
NM_000527.4:c.2049_2063delinsTGCCCCGCAGATCAA , LRG_274t1:c.2049_2063delinsTGCCCCGCAGATCAA	NP_000518.1:p.Pro683=
NM_001195798.1:c.2049_2063delinsTGCCCCGCAGATCAA	NP_001182727.1:p.Pro683=
NM_001195799.1:c.1926_1940delinsTGCCCCGCAGATCAA	NP_001182728.1:p.Pro642=
NM_001195800.1:c.1545_1559delinsTGCCCCGCAGATCAA	NP_001182729.1:p.Pro515=
NM_001195803.1:c.1606+198_1606+212delinsTGCCCCGCAGATCAA	NP_001182732.1:n.1606+198_1606+212delinsT...
XM_011528010.1:c.2049_2063delinsTGCCCCGCAGATCAA	XP_011526312.1:p.Pro683=
XM_011528011.1:c.1668_1682delinsTGCCCCGCAGATCAA	XP_011526313.1:p.Pro556=
XR_244074.2:n.2059_2073delinsTGCCCCGCAGATCAA
XM_011528010.2:c.2049_2063delinsTGCCCCGCAGATCAA	XP_011526312.1:p.Pro683=
XR_001753685.2:n.2166_2180delinsTGCCCCGCAGATCAA
XR_001753686.2:n.2026_2040delinsTGCCCCGCAGATCAA
NM_000527.5:c.2049_2063delinsTGCCCCGCAGATCAA MANE Select	NP_000518.1:p.Pro683=
NM_001195798.2:c.2049_2063delinsTGCCCCGCAGATCAA	NP_001182727.1:p.Pro683=
NM_001195799.2:c.1926_1940delinsTGCCCCGCAGATCAA	NP_001182728.1:p.Pro642=
NM_001195800.2:c.1545_1559delinsTGCCCCGCAGATCAA	NP_001182729.1:p.Pro515=
NM_001195803.2:c.1606+198_1606+212delinsTGCCCCGCAGATCAA	NP_001182732.1:n.1606+198_1606+212delinsT...