Canonical Allele Identifier: CA2322775286

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120000_11120004delinsGACAA , CM000681.2:g.11120000_11120004delinsGACAA	GRCh38
NC_000019.9:g.11230676_11230680delinsGACAA , CM000681.1:g.11230676_11230680delinsGACAA	GRCh37
NC_000019.8:g.11091676_11091680delinsGACAA	NCBI36
NG_009060.1:g.35620_35624delinsGACAA , LRG_274:g.35620_35624delinsGACAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-92_2104-88delinsGACAA	ENSP00000252444.6:n.2104-92_2104-88delins...
ENST00000559340.2:c.1706-92_1706-88delinsGACAA	ENSP00000453696.2:n.1706-92_1706-88delins...
ENST00000560467.2:c.1726-92_1726-88delinsGACAA	ENSP00000453513.2:n.1726-92_1726-88delins...
ENST00000558518.6:c.1846-92_1846-88delinsGACAA MANE Select	ENSP00000454071.1:n.1846-92_1846-88delins...
ENST00000252444.9:c.2100-92_2100-88delinsGACAA
ENST00000455727.6:c.1342-92_1342-88delinsGACAA	ENSP00000397829.2:n.1342-92_1342-88delins...
ENST00000535915.5:c.1723-92_1723-88delinsGACAA	ENSP00000440520.1:n.1723-92_1723-88delins...
ENST00000545707.5:c.1465-92_1465-88delinsGACAA	ENSP00000437639.1:n.1465-92_1465-88delins...
ENST00000557933.5:c.1846-92_1846-88delinsGACAA	ENSP00000453557.1:n.1846-92_1846-88delins...
ENST00000558013.5:c.1846-92_1846-88delinsGACAA	ENSP00000453346.1:n.1846-92_1846-88delins...
ENST00000558518.5:c.1846-92_1846-88delinsGACAA	ENSP00000454071.1:n.1846-92_1846-88delins...
ENST00000559340.1:c.427-92_427-88delinsGACAA
NM_000527.4:c.1846-92_1846-88delinsGACAA , LRG_274t1:c.1846-92_1846-88delinsGACAA	NP_000518.1:n.1846-92_1846-88delinsGACAA
NM_001195798.1:c.1846-92_1846-88delinsGACAA	NP_001182727.1:n.1846-92_1846-88delinsGAC...
NM_001195799.1:c.1723-92_1723-88delinsGACAA	NP_001182728.1:n.1723-92_1723-88delinsGAC...
NM_001195800.1:c.1342-92_1342-88delinsGACAA	NP_001182729.1:n.1342-92_1342-88delinsGAC...
NM_001195803.1:c.1465-92_1465-88delinsGACAA	NP_001182732.1:n.1465-92_1465-88delinsGAC...
XM_011528010.1:c.1846-92_1846-88delinsGACAA	XP_011526312.1:n.1846-92_1846-88delinsGAC...
XM_011528011.1:c.1465-92_1465-88delinsGACAA	XP_011526313.1:n.1465-92_1465-88delinsGAC...
XR_244074.2:n.1856-92_1856-88delinsGACAA
XM_011528010.2:c.1846-92_1846-88delinsGACAA	XP_011526312.1:n.1846-92_1846-88delinsGAC...
XR_001753685.2:n.1963-92_1963-88delinsGACAA
XR_001753686.2:n.1823-92_1823-88delinsGACAA
NM_000527.5:c.1846-92_1846-88delinsGACAA MANE Select	NP_000518.1:n.1846-92_1846-88delinsGACAA
NM_001195798.2:c.1846-92_1846-88delinsGACAA	NP_001182727.1:n.1846-92_1846-88delinsGAC...
NM_001195799.2:c.1723-92_1723-88delinsGACAA	NP_001182728.1:n.1723-92_1723-88delinsGAC...
NM_001195800.2:c.1342-92_1342-88delinsGACAA	NP_001182729.1:n.1342-92_1342-88delinsGAC...
NM_001195803.2:c.1465-92_1465-88delinsGACAA	NP_001182732.1:n.1465-92_1465-88delinsGAC...