Canonical Allele Identifier: CA2322760884

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11091681_11091685delinsTTCTC , CM000681.2:g.11091681_11091685delinsTTCTC	GRCh38
NC_000019.9:g.11202357_11202361delinsTTCTC , CM000681.1:g.11202357_11202361delinsTTCTC	GRCh37
NC_000019.8:g.11063357_11063361delinsTTCTC	NCBI36
NG_009060.1:g.7301_7305delinsTTCTC , LRG_274:g.7301_7305delinsTTCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.325+762_325+766delinsTTCTC	ENSP00000252444.6:n.325+762_325+766delins...
ENST00000559340.2:c.67+2066_67+2070delinsTTCTC	ENSP00000453696.2:n.67+2066_67+2070delins...
ENST00000560467.2:c.67+2066_67+2070delinsTTCTC	ENSP00000453513.2:n.67+2066_67+2070delins...
ENST00000558518.6:c.67+2066_67+2070delinsTTCTC MANE Select	ENSP00000454071.1:n.67+2066_67+2070delins...
ENST00000252444.9:c.321+762_321+766delinsTTCTC
ENST00000455727.6:c.67+2066_67+2070delinsTTCTC	ENSP00000397829.2:n.67+2066_67+2070delins...
ENST00000535915.5:c.67+2066_67+2070delinsTTCTC	ENSP00000440520.1:n.67+2066_67+2070delins...
ENST00000545707.5:c.67+2066_67+2070delinsTTCTC	ENSP00000437639.1:n.67+2066_67+2070delins...
ENST00000557933.5:c.67+2066_67+2070delinsTTCTC	ENSP00000453557.1:n.67+2066_67+2070delins...
ENST00000557958.1:n.153+2066_153+2070delinsTTCTC
ENST00000558013.5:c.67+2066_67+2070delinsTTCTC	ENSP00000453346.1:n.67+2066_67+2070delins...
ENST00000558518.5:c.67+2066_67+2070delinsTTCTC	ENSP00000454071.1:n.67+2066_67+2070delins...
ENST00000560502.5:n.153+2066_153+2070delinsTTCTC
NM_000527.4:c.67+2066_67+2070delinsTTCTC , LRG_274t1:c.67+2066_67+2070delinsTTCTC	NP_000518.1:n.67+2066_67+2070delinsTTCTC
NM_001195798.1:c.67+2066_67+2070delinsTTCTC	NP_001182727.1:n.67+2066_67+2070delinsTTC...
NM_001195799.1:c.67+2066_67+2070delinsTTCTC	NP_001182728.1:n.67+2066_67+2070delinsTTC...
NM_001195800.1:c.67+2066_67+2070delinsTTCTC	NP_001182729.1:n.67+2066_67+2070delinsTTC...
NM_001195803.1:c.67+2066_67+2070delinsTTCTC	NP_001182732.1:n.67+2066_67+2070delinsTTC...
XM_011528010.1:c.67+2066_67+2070delinsTTCTC	XP_011526312.1:n.67+2066_67+2070delinsTTC...
XM_011528011.1:c.67+2066_67+2070delinsTTCTC	XP_011526313.1:n.67+2066_67+2070delinsTTC...
XR_244074.2:n.217+2066_217+2070delinsTTCTC
XM_011528010.2:c.67+2066_67+2070delinsTTCTC	XP_011526312.1:n.67+2066_67+2070delinsTTC...
XR_001753685.2:n.184+2066_184+2070delinsTTCTC
XR_001753686.2:n.184+2066_184+2070delinsTTCTC
NM_000527.5:c.67+2066_67+2070delinsTTCTC MANE Select	NP_000518.1:n.67+2066_67+2070delinsTTCTC
NM_001195798.2:c.67+2066_67+2070delinsTTCTC	NP_001182727.1:n.67+2066_67+2070delinsTTC...
NM_001195799.2:c.67+2066_67+2070delinsTTCTC	NP_001182728.1:n.67+2066_67+2070delinsTTC...
NM_001195800.2:c.67+2066_67+2070delinsTTCTC	NP_001182729.1:n.67+2066_67+2070delinsTTC...
NM_001195803.2:c.67+2066_67+2070delinsTTCTC	NP_001182732.1:n.67+2066_67+2070delinsTTC...