Canonical Allele Identifier: CA2573050606
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11114921_11119196del , CM000681.2:g.11114921_11119196del GRCh38
NC_000019.9:g.11225597_11229872del , CM000681.1:g.11225597_11229872del GRCh37
NC_000019.8:g.11086597_11090872del NCBI36
NG_009060.1:g.30541_34816del , LRG_274:g.30541_34816del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1844+1159_2104-896del
ENST00000559340.2:c.1586+1159_1706-896del
ENST00000560467.2:c.1466+1159_1726-896del
ENST00000558518.6:c.1586+1159_1846-896del
ENST00000252444.9:c.1840+1159_2100-896del
ENST00000455727.6:c.1082+1159_1342-896del
ENST00000535915.5:c.1463+1159_1723-896del
ENST00000545707.5:c.1205+1159_1465-896del
ENST00000557933.5:c.1586+1159_1846-896del
ENST00000558013.5:c.1586+1159_1846-896del
ENST00000558518.5:c.1586+1159_1846-896del
ENST00000559340.1:c.307+1159_427-896del
NM_000527.4:c.1586+1159_1846-896del , LRG_274t1:c.1586+1159_1846-896del
NM_001195798.1:c.1586+1159_1846-896del
NM_001195799.1:c.1463+1159_1723-896del
NM_001195800.1:c.1082+1159_1342-896del
NM_001195803.1:c.1205+1159_1465-896del
XM_011528010.1:c.1586+1159_1846-896del
XM_011528011.1:c.1205+1159_1465-896del
XR_244074.2:n.1736+1159_1856-896del
XM_011528010.2:c.1586+1159_1846-896del
XR_001753685.2:n.1703+1159_1963-896del
XR_001753686.2:n.1703+1159_1823-896del
NM_000527.5:c.1586+1159_1846-896del
NM_001195798.2:c.1586+1159_1846-896del
NM_001195799.2:c.1463+1159_1723-896del
NM_001195800.2:c.1082+1159_1342-896del
NM_001195803.2:c.1205+1159_1465-896del