Canonical Allele Identifier: CA3047147327

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120235_11120370del , CM000681.2:g.11120235_11120370del	GRCh38
NC_000019.9:g.11230911_11231046del , CM000681.1:g.11230911_11231046del	GRCh37
NC_000019.8:g.11091911_11092046del	NCBI36
NG_009060.1:g.35855_35990del , LRG_274:g.35855_35990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2245+2_2246del
ENST00000559340.2:c.*56+2_*57del
ENST00000560467.2:c.1867+2_1868del
ENST00000558518.6:c.1987+2_1988del
ENST00000252444.9:c.2241+2_2242del
ENST00000455727.6:c.1483+2_1484del
ENST00000535915.5:c.1864+2_1865del
ENST00000545707.5:c.1606+2_1606+137del
ENST00000557933.5:c.1987+2_1988del
ENST00000558013.5:c.1987+2_1988del
ENST00000558518.5:c.1987+2_1988del
ENST00000559340.1:c.568+2_569del
NM_000527.4:c.1987+2_1988del , LRG_274t1:c.1987+2_1988del
NM_001195798.1:c.1987+2_1988del
NM_001195799.1:c.1864+2_1865del
NM_001195800.1:c.1483+2_1484del
NM_001195803.1:c.1606+2_1606+137del
XM_011528010.1:c.1987+2_1988del
XM_011528011.1:c.1606+2_1607del
XR_244074.2:n.1997+2_1998del
XM_011528010.2:c.1987+2_1988del
XR_001753685.2:n.2104+2_2105del
XR_001753686.2:n.1964+2_1965del
NM_000527.5:c.1987+2_1988del
NM_001195798.2:c.1987+2_1988del
NM_001195799.2:c.1864+2_1865del
NM_001195800.2:c.1483+2_1484del
NM_001195803.2:c.1606+2_1606+137del