Canonical Allele Identifier: CA783234171

Gene: LDLR

Linked Data

• dbSNP Id: rs1362178644
• gnomAD v3: 19-11091688-TC-T
• MyVariant Identifiers: chr19:g.11202365del (hg19) ; chr19:g.11091689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11091691del , CM000681.2:g.11091691del	GRCh38
NC_000019.9:g.11202367del , CM000681.1:g.11202367del	GRCh37
NC_000019.8:g.11063367del	NCBI36
NG_009060.1:g.7311del , LRG_274:g.7311del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.325+772del	ENSP00000252444.6:n.325+772del
ENST00000559340.2:c.67+2076del	ENSP00000453696.2:n.67+2076del
ENST00000560467.2:c.67+2076del	ENSP00000453513.2:n.67+2076del
ENST00000558518.6:c.67+2076del MANE Select	ENSP00000454071.1:n.67+2076del
ENST00000252444.9:c.321+772del
ENST00000455727.6:c.67+2076del	ENSP00000397829.2:n.67+2076del
ENST00000535915.5:c.67+2076del	ENSP00000440520.1:n.67+2076del
ENST00000545707.5:c.67+2076del	ENSP00000437639.1:n.67+2076del
ENST00000557933.5:c.67+2076del	ENSP00000453557.1:n.67+2076del
ENST00000557958.1:n.153+2076del
ENST00000558013.5:c.67+2076del	ENSP00000453346.1:n.67+2076del
ENST00000558518.5:c.67+2076del	ENSP00000454071.1:n.67+2076del
ENST00000560502.5:n.153+2076del
NM_000527.4:c.67+2076del , LRG_274t1:c.67+2076del	NP_000518.1:n.67+2076del
NM_001195798.1:c.67+2076del	NP_001182727.1:n.67+2076del
NM_001195799.1:c.67+2076del	NP_001182728.1:n.67+2076del
NM_001195800.1:c.67+2076del	NP_001182729.1:n.67+2076del
NM_001195803.1:c.67+2076del	NP_001182732.1:n.67+2076del
XM_011528010.1:c.67+2076del	XP_011526312.1:n.67+2076del
XM_011528011.1:c.67+2076del	XP_011526313.1:n.67+2076del
XR_244074.2:n.217+2076del
XM_011528010.2:c.67+2076del	XP_011526312.1:n.67+2076del
XR_001753685.2:n.184+2076del
XR_001753686.2:n.184+2076del
NM_000527.5:c.67+2076del MANE Select	NP_000518.1:n.67+2076del
NM_001195798.2:c.67+2076del	NP_001182727.1:n.67+2076del
NM_001195799.2:c.67+2076del	NP_001182728.1:n.67+2076del
NM_001195800.2:c.67+2076del	NP_001182729.1:n.67+2076del
NM_001195803.2:c.67+2076del	NP_001182732.1:n.67+2076del