Canonical Allele Identifier: CA2322770842

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111693_11111702delinsTGGTGGGGGA , CM000681.2:g.11111693_11111702delinsTGGTGGGGGA	GRCh38
NC_000019.9:g.11222369_11222378delinsTGGTGGGGGA , CM000681.1:g.11222369_11222378delinsTGGTGGGGGA	GRCh37
NC_000019.8:g.11083369_11083378delinsTGGTGGGGGA	NCBI36
NG_009060.1:g.27313_27322delinsTGGTGGGGGA , LRG_274:g.27313_27322delinsTGGTGGGGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1444+54_1444+63delinsTGGTGGGGGA	ENSP00000252444.6:n.1444+54_1444+63delinsTGGTGGGGGA
ENST00000559340.2:c.1186+54_1186+63delinsTGGTGGGGGA	ENSP00000453696.2:n.1186+54_1186+63delinsTGGTGGGGGA
ENST00000560467.2:c.1066+54_1066+63delinsTGGTGGGGGA	ENSP00000453513.2:n.1066+54_1066+63delinsTGGTGGGGGA
ENST00000558518.6:c.1186+54_1186+63delinsTGGTGGGGGA MANE Select	ENSP00000454071.1:n.1186+54_1186+63delinsTGGTGGGGGA
ENST00000252444.9:c.1440+54_1440+63delinsTGGTGGGGGA
ENST00000455727.6:c.682+54_682+63delinsTGGTGGGGGA	ENSP00000397829.2:n.682+54_682+63delinsTGGTGGGGGA
ENST00000535915.5:c.1063+54_1063+63delinsTGGTGGGGGA	ENSP00000440520.1:n.1063+54_1063+63delinsTGGTGGGGGA
ENST00000545707.5:c.805+54_805+63delinsTGGTGGGGGA	ENSP00000437639.1:n.805+54_805+63delinsTGGTGGGGGA
ENST00000557933.5:c.1186+54_1186+63delinsTGGTGGGGGA	ENSP00000453557.1:n.1186+54_1186+63delinsTGGTGGGGGA
ENST00000558013.5:c.1186+54_1186+63delinsTGGTGGGGGA	ENSP00000453346.1:n.1186+54_1186+63delinsTGGTGGGGGA
ENST00000558518.5:c.1186+54_1186+63delinsTGGTGGGGGA	ENSP00000454071.1:n.1186+54_1186+63delinsTGGTGGGGGA
ENST00000560173.1:n.185+54_185+63delinsTGGTGGGGGA
ENST00000560467.1:c.666+54_666+63delinsTGGTGGGGGA
NM_000527.4:c.1186+54_1186+63delinsTGGTGGGGGA , LRG_274t1:c.1186+54_1186+63delinsTGGTGGGGGA	NP_000518.1:n.1186+54_1186+63delinsTGGTGGGGGA
NM_001195798.1:c.1186+54_1186+63delinsTGGTGGGGGA	NP_001182727.1:n.1186+54_1186+63delinsTGGTGGGGGA
NM_001195799.1:c.1063+54_1063+63delinsTGGTGGGGGA	NP_001182728.1:n.1063+54_1063+63delinsTGGTGGGGGA
NM_001195800.1:c.682+54_682+63delinsTGGTGGGGGA	NP_001182729.1:n.682+54_682+63delinsTGGTGGGGGA
NM_001195803.1:c.805+54_805+63delinsTGGTGGGGGA	NP_001182732.1:n.805+54_805+63delinsTGGTGGGGGA
XM_011528010.1:c.1186+54_1186+63delinsTGGTGGGGGA	XP_011526312.1:n.1186+54_1186+63delinsTGGTGGGGGA
XM_011528011.1:c.805+54_805+63delinsTGGTGGGGGA	XP_011526313.1:n.805+54_805+63delinsTGGTGGGGGA
XR_244074.2:n.1336+54_1336+63delinsTGGTGGGGGA
XM_011528010.2:c.1186+54_1186+63delinsTGGTGGGGGA	XP_011526312.1:n.1186+54_1186+63delinsTGGTGGGGGA
XR_001753685.2:n.1303+54_1303+63delinsTGGTGGGGGA
XR_001753686.2:n.1303+54_1303+63delinsTGGTGGGGGA
NM_000527.5:c.1186+54_1186+63delinsTGGTGGGGGA MANE Select	NP_000518.1:n.1186+54_1186+63delinsTGGTGGGGGA
NM_001195798.2:c.1186+54_1186+63delinsTGGTGGGGGA	NP_001182727.1:n.1186+54_1186+63delinsTGGTGGGGGA
NM_001195799.2:c.1063+54_1063+63delinsTGGTGGGGGA	NP_001182728.1:n.1063+54_1063+63delinsTGGTGGGGGA
NM_001195800.2:c.682+54_682+63delinsTGGTGGGGGA	NP_001182729.1:n.682+54_682+63delinsTGGTGGGGGA
NM_001195803.2:c.805+54_805+63delinsTGGTGGGGGA	NP_001182732.1:n.805+54_805+63delinsTGGTGGGGGA