Canonical Allele Identifier: CA3268024479
Community Standard Title: NC_000019.10:g.11113511_11116138del
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113511_11116138del , CM000681.2:g.11113511_11116138del GRCh38
NC_000019.9:g.11224187_11226814del , CM000681.1:g.11224187_11226814del GRCh37
NC_000019.8:g.11085187_11087814del NCBI36
NG_009060.1:g.29131_31758del , LRG_274:g.29131_31758del

Transcript Alleles

HGVS Amino-acid Change
NM_000527.4:c.1359-24_1631del , LRG_274t1:c.1359-24_1631del
NM_000527.5:c.1359-24_1631del
NM_001195798.1:c.1359-24_1631del
NM_001195798.2:c.1359-24_1631del
NM_001195799.1:c.1236-24_1508del
NM_001195799.2:c.1236-24_1508del
NM_001195800.1:c.855-24_1127del
NM_001195800.2:c.855-24_1127del
NM_001195803.1:c.978-24_1250del
NM_001195803.2:c.978-24_1250del
ENST00000252444.10:c.1617-24_1889del
ENST00000252444.9:c.1613-24_1885del
ENST00000455727.6:c.855-24_1127del
ENST00000535915.5:c.1236-24_1508del
ENST00000545707.5:c.978-24_1250del
ENST00000557933.5:c.1359-24_1631del
ENST00000558013.5:c.1359-24_1631del
ENST00000558518.5:c.1359-24_1631del
ENST00000558518.6:c.1359-24_1631del
ENST00000559340.1:c.80-24_352del
ENST00000559340.2:c.1359-24_1631del
ENST00000560467.2:c.1239-24_1511del
XM_011528010.1:c.1359-24_1631del
XM_011528010.2:c.1359-24_1631del
XM_011528011.1:c.978-24_1250del
XR_001753685.2:n.1476-24_1748del
XR_001753686.2:n.1476-24_1748del
XR_244074.2:n.1509-24_1781del