Canonical Allele Identifier: CA2582472292

Gene: LDLR

Linked Data

• gnomAD v4: 19-11102883-TGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102884_11102887del , CM000681.2:g.11102884_11102887del	GRCh38
NC_000019.9:g.11213560_11213563del , CM000681.1:g.11213560_11213563del	GRCh37
NC_000019.8:g.11074560_11074563del	NCBI36
NG_009060.1:g.18504_18507del , LRG_274:g.18504_18507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.571+98_571+101del	ENSP00000252444.6:n.571+98_571+101del
ENST00000559340.2:c.313+98_313+101del	ENSP00000453696.2:n.313+98_313+101del
ENST00000560467.2:c.313+98_313+101del	ENSP00000453513.2:n.313+98_313+101del
ENST00000558518.6:c.313+98_313+101del MANE Select	ENSP00000454071.1:n.313+98_313+101del
ENST00000252444.9:c.567+98_567+101del
ENST00000455727.6:c.313+98_313+101del	ENSP00000397829.2:n.313+98_313+101del
ENST00000535915.5:c.191-2336_191-2333del	ENSP00000440520.1:n.191-2336_191-2333del
ENST00000545707.5:c.313+98_313+101del	ENSP00000437639.1:n.313+98_313+101del
ENST00000557933.5:c.313+98_313+101del	ENSP00000453557.1:n.313+98_313+101del
ENST00000557958.1:n.497_500del
ENST00000558013.5:c.313+98_313+101del	ENSP00000453346.1:n.313+98_313+101del
ENST00000558518.5:c.313+98_313+101del	ENSP00000454071.1:n.313+98_313+101del
NM_000527.4:c.313+98_313+101del , LRG_274t1:c.313+98_313+101del	NP_000518.1:n.313+98_313+101del
NM_001195798.1:c.313+98_313+101del	NP_001182727.1:n.313+98_313+101del
NM_001195799.1:c.191-2336_191-2333del	NP_001182728.1:n.191-2336_191-2333del
NM_001195800.1:c.313+98_313+101del	NP_001182729.1:n.313+98_313+101del
NM_001195803.1:c.313+98_313+101del	NP_001182732.1:n.313+98_313+101del
XM_011528010.1:c.313+98_313+101del	XP_011526312.1:n.313+98_313+101del
XM_011528011.1:c.313+98_313+101del	XP_011526313.1:n.313+98_313+101del
XR_244074.2:n.463+98_463+101del
XM_011528010.2:c.313+98_313+101del	XP_011526312.1:n.313+98_313+101del
XR_001753685.2:n.430+98_430+101del
XR_001753686.2:n.430+98_430+101del
NM_000527.5:c.313+98_313+101del MANE Select	NP_000518.1:n.313+98_313+101del
NM_001195798.2:c.313+98_313+101del	NP_001182727.1:n.313+98_313+101del
NM_001195799.2:c.191-2336_191-2333del	NP_001182728.1:n.191-2336_191-2333del
NM_001195800.2:c.313+98_313+101del	NP_001182729.1:n.313+98_313+101del
NM_001195803.2:c.313+98_313+101del	NP_001182732.1:n.313+98_313+101del