Canonical Allele Identifier: CA658653703

Gene: LDLR

Linked Data

• ClinVar Variation Id: 441189
• ClinVar RCV Id: RCV000509465 ; RCV001857295
• dbSNP Id: rs1555803439
• MyVariant Identifiers: chr19:g.11216254_11216268del (hg19) ; chr19:g.11105578_11105592del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105578_11105592del , CM000681.2:g.11105578_11105592del	GRCh38
NC_000019.9:g.11216254_11216268del , CM000681.1:g.11216254_11216268del	GRCh37
NC_000019.8:g.11077254_11077268del	NCBI36
NG_009060.1:g.21198_21212del , LRG_274:g.21198_21212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.930_944del	ENSP00000252444.6:p.Asp310_Glu314del
ENST00000559340.2:c.672_686del	ENSP00000453696.2:p.Asp224_Glu228del
ENST00000560467.2:c.672_686del	ENSP00000453513.2:p.Asp224_Glu228del
ENST00000558518.6:c.672_686del MANE Select	ENSP00000454071.1:p.Asp224_Glu228del
ENST00000252444.9:c.926_940del
ENST00000455727.6:c.314-1814_314-1800del	ENSP00000397829.2:n.314-1814_314-1800del
ENST00000535915.5:c.549_563del	ENSP00000440520.1:p.Asp183_Glu187del
ENST00000545707.5:c.314-987_314-973del	ENSP00000437639.1:n.314-987_314-973del
ENST00000557933.5:c.672_686del	ENSP00000453557.1:p.Asp224_Glu228del
ENST00000558013.5:c.672_686del	ENSP00000453346.1:p.Asp224_Glu228del
ENST00000558518.5:c.672_686del	ENSP00000454071.1:p.Asp224_Glu228del
ENST00000560467.1:c.272_286del
NM_000527.4:c.672_686del , LRG_274t1:c.672_686del	NP_000518.1:p.Asp224_Glu228del
NM_001195798.1:c.672_686del	NP_001182727.1:p.Asp224_Glu228del
NM_001195799.1:c.549_563del	NP_001182728.1:p.Asp183_Glu187del
NM_001195800.1:c.314-1814_314-1800del	NP_001182729.1:n.314-1814_314-1800del
NM_001195803.1:c.314-987_314-973del	NP_001182732.1:n.314-987_314-973del
XM_011528010.1:c.672_686del	XP_011526312.1:p.Asp224_Glu228del
XM_011528011.1:c.314-987_314-973del	XP_011526313.1:n.314-987_314-973del
XR_244074.2:n.822_836del
XM_011528010.2:c.672_686del	XP_011526312.1:p.Asp224_Glu228del
XR_001753685.2:n.789_803del
XR_001753686.2:n.789_803del
NM_000527.5:c.672_686del MANE Select	NP_000518.1:p.Asp224_Glu228del
NM_001195798.2:c.672_686del	NP_001182727.1:p.Asp224_Glu228del
NM_001195799.2:c.549_563del	NP_001182728.1:p.Asp183_Glu187del
NM_001195800.2:c.314-1814_314-1800del	NP_001182729.1:n.314-1814_314-1800del
NM_001195803.2:c.314-987_314-973del	NP_001182732.1:n.314-987_314-973del