Canonical Allele Identifier: CA2322775301

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120016_11120019delinsAGTT , CM000681.2:g.11120016_11120019delinsAGTT	GRCh38
NC_000019.9:g.11230692_11230695delinsAGTT , CM000681.1:g.11230692_11230695delinsAGTT	GRCh37
NC_000019.8:g.11091692_11091695delinsAGTT	NCBI36
NG_009060.1:g.35636_35639delinsAGTT , LRG_274:g.35636_35639delinsAGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-76_2104-73delinsAGTT	ENSP00000252444.6:n.2104-76_2104-73delins...
ENST00000559340.2:c.1706-76_1706-73delinsAGTT	ENSP00000453696.2:n.1706-76_1706-73delins...
ENST00000560467.2:c.1726-76_1726-73delinsAGTT	ENSP00000453513.2:n.1726-76_1726-73delins...
ENST00000558518.6:c.1846-76_1846-73delinsAGTT MANE Select	ENSP00000454071.1:n.1846-76_1846-73delins...
ENST00000252444.9:c.2100-76_2100-73delinsAGTT
ENST00000455727.6:c.1342-76_1342-73delinsAGTT	ENSP00000397829.2:n.1342-76_1342-73delins...
ENST00000535915.5:c.1723-76_1723-73delinsAGTT	ENSP00000440520.1:n.1723-76_1723-73delins...
ENST00000545707.5:c.1465-76_1465-73delinsAGTT	ENSP00000437639.1:n.1465-76_1465-73delins...
ENST00000557933.5:c.1846-76_1846-73delinsAGTT	ENSP00000453557.1:n.1846-76_1846-73delins...
ENST00000558013.5:c.1846-76_1846-73delinsAGTT	ENSP00000453346.1:n.1846-76_1846-73delins...
ENST00000558518.5:c.1846-76_1846-73delinsAGTT	ENSP00000454071.1:n.1846-76_1846-73delins...
ENST00000559340.1:c.427-76_427-73delinsAGTT
NM_000527.4:c.1846-76_1846-73delinsAGTT , LRG_274t1:c.1846-76_1846-73delinsAGTT	NP_000518.1:n.1846-76_1846-73delinsAGTT
NM_001195798.1:c.1846-76_1846-73delinsAGTT	NP_001182727.1:n.1846-76_1846-73delinsAGT...
NM_001195799.1:c.1723-76_1723-73delinsAGTT	NP_001182728.1:n.1723-76_1723-73delinsAGT...
NM_001195800.1:c.1342-76_1342-73delinsAGTT	NP_001182729.1:n.1342-76_1342-73delinsAGT...
NM_001195803.1:c.1465-76_1465-73delinsAGTT	NP_001182732.1:n.1465-76_1465-73delinsAGT...
XM_011528010.1:c.1846-76_1846-73delinsAGTT	XP_011526312.1:n.1846-76_1846-73delinsAGT...
XM_011528011.1:c.1465-76_1465-73delinsAGTT	XP_011526313.1:n.1465-76_1465-73delinsAGT...
XR_244074.2:n.1856-76_1856-73delinsAGTT
XM_011528010.2:c.1846-76_1846-73delinsAGTT	XP_011526312.1:n.1846-76_1846-73delinsAGT...
XR_001753685.2:n.1963-76_1963-73delinsAGTT
XR_001753686.2:n.1823-76_1823-73delinsAGTT
NM_000527.5:c.1846-76_1846-73delinsAGTT MANE Select	NP_000518.1:n.1846-76_1846-73delinsAGTT
NM_001195798.2:c.1846-76_1846-73delinsAGTT	NP_001182727.1:n.1846-76_1846-73delinsAGT...
NM_001195799.2:c.1723-76_1723-73delinsAGTT	NP_001182728.1:n.1723-76_1723-73delinsAGT...
NM_001195800.2:c.1342-76_1342-73delinsAGTT	NP_001182729.1:n.1342-76_1342-73delinsAGT...
NM_001195803.2:c.1465-76_1465-73delinsAGTT	NP_001182732.1:n.1465-76_1465-73delinsAGT...