Canonical Allele Identifier: CA3268024456
Community Standard Title: NC_000019.10:g.11113506_11116094del
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113506_11116094del , CM000681.2:g.11113506_11116094del GRCh38
NC_000019.9:g.11224182_11226770del , CM000681.1:g.11224182_11226770del GRCh37
NC_000019.8:g.11085182_11087770del NCBI36
NG_009060.1:g.29126_31714del , LRG_274:g.29126_31714del

Transcript Alleles

HGVS Amino-acid Change
NM_000527.4:c.1359-29_1587del , LRG_274t1:c.1359-29_1587del
NM_000527.5:c.1359-29_1587del
NM_001195798.1:c.1359-29_1587del
NM_001195798.2:c.1359-29_1587del
NM_001195799.1:c.1236-29_1464del
NM_001195799.2:c.1236-29_1464del
NM_001195800.1:c.855-29_1083del
NM_001195800.2:c.855-29_1083del
NM_001195803.1:c.978-29_1206del
NM_001195803.2:c.978-29_1206del
ENST00000252444.10:c.1617-29_1845del
ENST00000252444.9:c.1613-29_1841del
ENST00000455727.6:c.855-29_1083del
ENST00000535915.5:c.1236-29_1464del
ENST00000545707.5:c.978-29_1206del
ENST00000557933.5:c.1359-29_1587del
ENST00000558013.5:c.1359-29_1587del
ENST00000558518.5:c.1359-29_1587del
ENST00000558518.6:c.1359-29_1587del
ENST00000559340.1:c.80-29_308del
ENST00000559340.2:c.1359-29_1587del
ENST00000560467.2:c.1239-29_1467del
XM_011528010.1:c.1359-29_1587del
XM_011528010.2:c.1359-29_1587del
XM_011528011.1:c.978-29_1206del
XR_001753685.2:n.1476-29_1704del
XR_001753686.2:n.1476-29_1704del
XR_244074.2:n.1509-29_1737del