Canonical Allele Identifier: CA2322775584

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120432_11120446delinsGCCCCGCAGATCAAC , CM000681.2:g.11120432_11120446delinsGCCCCGCAGATCAAC	GRCh38
NC_000019.9:g.11231108_11231122delinsGCCCCGCAGATCAAC , CM000681.1:g.11231108_11231122delinsGCCCCGCAGATCAAC	GRCh37
NC_000019.8:g.11092108_11092122delinsGCCCCGCAGATCAAC	NCBI36
NG_009060.1:g.36052_36066delinsGCCCCGCAGATCAAC , LRG_274:g.36052_36066delinsGCCCCGCAGATCAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2308_2322delinsGCCCCGCAGATCAAC	ENSP00000252444.6:p.Ala770=
ENST00000559340.2:c.*119_*133delinsGCCCCGCAGATCAAC	ENSP00000453696.2:n.*119_*133delinsGCCCCG...
ENST00000560467.2:c.1930_1944delinsGCCCCGCAGATCAAC	ENSP00000453513.2:p.Ala644=
ENST00000558518.6:c.2050_2064delinsGCCCCGCAGATCAAC MANE Select	ENSP00000454071.1:p.Ala684=
ENST00000252444.9:c.2304_2318delinsGCCCCGCAGATCAAC
ENST00000455727.6:c.1546_1560delinsGCCCCGCAGATCAAC	ENSP00000397829.2:p.Ala516=
ENST00000535915.5:c.1927_1941delinsGCCCCGCAGATCAAC	ENSP00000440520.1:p.Ala643=
ENST00000545707.5:c.1606+199_1606+213delinsGCCCCGCAGATCAAC	ENSP00000437639.1:n.1606+199_1606+213deli...
ENST00000557933.5:c.2050_2064delinsGCCCCGCAGATCAAC	ENSP00000453557.1:p.Ala684=
ENST00000558013.5:c.2050_2064delinsGCCCCGCAGATCAAC	ENSP00000453346.1:p.Ala684=
ENST00000558518.5:c.2050_2064delinsGCCCCGCAGATCAAC	ENSP00000454071.1:p.Ala684=
NM_000527.4:c.2050_2064delinsGCCCCGCAGATCAAC , LRG_274t1:c.2050_2064delinsGCCCCGCAGATCAAC	NP_000518.1:p.Ala684=
NM_001195798.1:c.2050_2064delinsGCCCCGCAGATCAAC	NP_001182727.1:p.Ala684=
NM_001195799.1:c.1927_1941delinsGCCCCGCAGATCAAC	NP_001182728.1:p.Ala643=
NM_001195800.1:c.1546_1560delinsGCCCCGCAGATCAAC	NP_001182729.1:p.Ala516=
NM_001195803.1:c.1606+199_1606+213delinsGCCCCGCAGATCAAC	NP_001182732.1:n.1606+199_1606+213delinsG...
XM_011528010.1:c.2050_2064delinsGCCCCGCAGATCAAC	XP_011526312.1:p.Ala684=
XM_011528011.1:c.1669_1683delinsGCCCCGCAGATCAAC	XP_011526313.1:p.Ala557=
XR_244074.2:n.2060_2074delinsGCCCCGCAGATCAAC
XM_011528010.2:c.2050_2064delinsGCCCCGCAGATCAAC	XP_011526312.1:p.Ala684=
XR_001753685.2:n.2167_2181delinsGCCCCGCAGATCAAC
XR_001753686.2:n.2027_2041delinsGCCCCGCAGATCAAC
NM_000527.5:c.2050_2064delinsGCCCCGCAGATCAAC MANE Select	NP_000518.1:p.Ala684=
NM_001195798.2:c.2050_2064delinsGCCCCGCAGATCAAC	NP_001182727.1:p.Ala684=
NM_001195799.2:c.1927_1941delinsGCCCCGCAGATCAAC	NP_001182728.1:p.Ala643=
NM_001195800.2:c.1546_1560delinsGCCCCGCAGATCAAC	NP_001182729.1:p.Ala516=
NM_001195803.2:c.1606+199_1606+213delinsGCCCCGCAGATCAAC	NP_001182732.1:n.1606+199_1606+213delinsG...