Canonical Allele Identifier: CA3268024386
Community Standard Title: NC_000019.10:g.11113298_11116092del
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113298_11116092del , CM000681.2:g.11113298_11116092del GRCh38
NC_000019.9:g.11223974_11226768del , CM000681.1:g.11223974_11226768del GRCh37
NC_000019.8:g.11084974_11087768del NCBI36
NG_009060.1:g.28918_31712del , LRG_274:g.28918_31712del

Transcript Alleles

HGVS Amino-acid Change
NM_000527.4:c.1207_1587-2del , LRG_274t1:c.1207_1587-2del
NM_000527.5:c.1207_1587-2del
NM_001195798.1:c.1207_1587-2del
NM_001195798.2:c.1207_1587-2del
NM_001195799.1:c.1084_1464-2del
NM_001195799.2:c.1084_1464-2del
NM_001195800.1:c.703_1083-2del
NM_001195800.2:c.703_1083-2del
NM_001195803.1:c.826_1206-2del
NM_001195803.2:c.826_1206-2del
ENST00000252444.10:c.1465_1845-2del
ENST00000252444.9:c.1461_1841-2del
ENST00000455727.6:c.703_1083-2del
ENST00000535915.5:c.1084_1464-2del
ENST00000545707.5:c.826_1206-2del
ENST00000557933.5:c.1207_1587-2del
ENST00000558013.5:c.1207_1587-2del
ENST00000558518.5:c.1207_1587-2del
ENST00000558518.6:c.1207_1587-2del
ENST00000559340.2:c.1207_1587-2del
ENST00000560467.2:c.1087_1467-2del
XM_011528010.1:c.1207_1587-2del
XM_011528010.2:c.1207_1587-2del
XM_011528011.1:c.826_1206-2del
XR_001753685.2:n.1324_1704-2del
XR_001753686.2:n.1324_1704-2del
XR_244074.2:n.1357_1737-2del