Canonical Allele Identifier: CA2580061394
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102664_11105600del , CM000681.2:g.11102664_11105600del GRCh38
NC_000019.9:g.11213340_11216276del , CM000681.1:g.11213340_11216276del GRCh37
NC_000019.8:g.11074340_11077276del NCBI36
NG_009060.1:g.18284_21220del , LRG_274:g.18284_21220del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.449_952del
ENST00000559340.2:c.191_694del
ENST00000560467.2:c.191_694del
ENST00000558518.6:c.191_694del
ENST00000252444.9:c.445_948del
ENST00000455727.6:c.191_314-1792del
ENST00000535915.5:c.190+2319_571del
ENST00000545707.5:c.191_314-965del
ENST00000557933.5:c.191_694del
ENST00000558013.5:c.191_694del
ENST00000558518.5:c.191_694del
NM_000527.4:c.191_694del , LRG_274t1:c.191_694del
NM_001195798.1:c.191_694del
NM_001195799.1:c.190+2319_571del
NM_001195800.1:c.191_314-1792del
NM_001195803.1:c.191_314-965del
XM_011528010.1:c.191_694del
XM_011528011.1:c.191_314-965del
XR_244074.2:n.341_844del
XM_011528010.2:c.191_694del
XR_001753685.2:n.308_811del
XR_001753686.2:n.308_811del
NM_000527.5:c.191_694del
NM_001195798.2:c.191_694del
NM_001195799.2:c.190+2319_571del
NM_001195800.2:c.191_314-1792del
NM_001195803.2:c.191_314-965del