Canonical Allele Identifier: CA2582474405

Gene: LDLR

Linked Data

• gnomAD v4: 19-11111644-GCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111647_11111708del , CM000681.2:g.11111647_11111708del	GRCh38
NC_000019.9:g.11222323_11222384del , CM000681.1:g.11222323_11222384del	GRCh37
NC_000019.8:g.11083323_11083384del	NCBI36
NG_009060.1:g.27267_27328del , LRG_274:g.27267_27328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1444+8_1444+69del	ENSP00000252444.6:n.1444+8_1444+69del
ENST00000559340.2:c.1186+8_1186+69del	ENSP00000453696.2:n.1186+8_1186+69del
ENST00000560467.2:c.1066+8_1066+69del	ENSP00000453513.2:n.1066+8_1066+69del
ENST00000558518.6:c.1186+8_1186+69del MANE Select	ENSP00000454071.1:n.1186+8_1186+69del
ENST00000252444.9:c.1440+8_1440+69del
ENST00000455727.6:c.682+8_682+69del	ENSP00000397829.2:n.682+8_682+69del
ENST00000535915.5:c.1063+8_1063+69del	ENSP00000440520.1:n.1063+8_1063+69del
ENST00000545707.5:c.805+8_805+69del	ENSP00000437639.1:n.805+8_805+69del
ENST00000557933.5:c.1186+8_1186+69del	ENSP00000453557.1:n.1186+8_1186+69del
ENST00000558013.5:c.1186+8_1186+69del	ENSP00000453346.1:n.1186+8_1186+69del
ENST00000558518.5:c.1186+8_1186+69del	ENSP00000454071.1:n.1186+8_1186+69del
ENST00000560173.1:n.185+8_185+69del
ENST00000560467.1:c.666+8_666+69del
NM_000527.4:c.1186+8_1186+69del , LRG_274t1:c.1186+8_1186+69del	NP_000518.1:n.1186+8_1186+69del
NM_001195798.1:c.1186+8_1186+69del	NP_001182727.1:n.1186+8_1186+69del
NM_001195799.1:c.1063+8_1063+69del	NP_001182728.1:n.1063+8_1063+69del
NM_001195800.1:c.682+8_682+69del	NP_001182729.1:n.682+8_682+69del
NM_001195803.1:c.805+8_805+69del	NP_001182732.1:n.805+8_805+69del
XM_011528010.1:c.1186+8_1186+69del	XP_011526312.1:n.1186+8_1186+69del
XM_011528011.1:c.805+8_805+69del	XP_011526313.1:n.805+8_805+69del
XR_244074.2:n.1336+8_1336+69del
XM_011528010.2:c.1186+8_1186+69del	XP_011526312.1:n.1186+8_1186+69del
XR_001753685.2:n.1303+8_1303+69del
XR_001753686.2:n.1303+8_1303+69del
NM_000527.5:c.1186+8_1186+69del MANE Select	NP_000518.1:n.1186+8_1186+69del
NM_001195798.2:c.1186+8_1186+69del	NP_001182727.1:n.1186+8_1186+69del
NM_001195799.2:c.1063+8_1063+69del	NP_001182728.1:n.1063+8_1063+69del
NM_001195800.2:c.682+8_682+69del	NP_001182729.1:n.682+8_682+69del
NM_001195803.2:c.805+8_805+69del	NP_001182732.1:n.805+8_805+69del