Canonical Allele Identifier: CA915941069

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105352_11110660del , CM000681.2:g.11105352_11110660del	GRCh38
NC_000019.9:g.11216028_11221336del , CM000681.1:g.11216028_11221336del	GRCh37
NC_000019.8:g.11077028_11082336del	NCBI36
NG_009060.1:g.20972_26280del , LRG_274:g.20972_26280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.704_1207del
ENST00000559340.2:c.446_949del
ENST00000560467.2:c.446_941-854del
ENST00000558518.6:c.446_949del
ENST00000252444.9:c.700_1203del
ENST00000455727.6:c.314-2040_445del
ENST00000535915.5:c.323_826del
ENST00000545707.5:c.314-1213_568del
ENST00000557933.5:c.446_949del
ENST00000558013.5:c.446_949del
ENST00000558518.5:c.446_949del
ENST00000560467.1:c.46_541-854del
NM_000527.4:c.446_949del , LRG_274t1:c.446_949del
NM_001195798.1:c.446_949del
NM_001195799.1:c.323_826del
NM_001195800.1:c.314-2040_445del
NM_001195803.1:c.314-1213_568del
XM_011528010.1:c.446_949del
XM_011528011.1:c.314-1213_568del
XR_244074.2:n.596_1099del
XM_011528010.2:c.446_949del
XR_001753685.2:n.563_1066del
XR_001753686.2:n.563_1066del
NM_000527.5:c.446_949del
NM_001195798.2:c.446_949del
NM_001195799.2:c.323_826del
NM_001195800.2:c.314-2040_445del
NM_001195803.2:c.314-1213_568del