Canonical Allele Identifier: CA645509289

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440676
• ClinVar RCV Id: RCV000508847
• dbSNP Id: rs1555807388
• MyVariant Identifiers: chr19:g.11231108del (hg19) ; chr19:g.11120432del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120432del , CM000681.2:g.11120432del	GRCh38
NC_000019.9:g.11231108del , CM000681.1:g.11231108del	GRCh37
NC_000019.8:g.11092108del	NCBI36
NG_009060.1:g.36052del , LRG_274:g.36052del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2308del	ENSP00000252444.6:p.Ala770ProfsTer25
ENST00000559340.2:c.*119del	ENSP00000453696.2:n.*119del
ENST00000560467.2:c.1930del	ENSP00000453513.2:p.Ala644ProfsTer25
ENST00000558518.6:c.2050del MANE Select	ENSP00000454071.1:p.Ala684ProfsTer25
ENST00000252444.9:c.2304del
ENST00000455727.6:c.1546del	ENSP00000397829.2:p.Ala516ProfsTer25
ENST00000535915.5:c.1927del	ENSP00000440520.1:p.Ala643ProfsTer25
ENST00000545707.5:c.1606+199del	ENSP00000437639.1:n.1606+199del
ENST00000557933.5:c.2050del	ENSP00000453557.1:p.Ala684ProfsTer25
ENST00000558013.5:c.2050del	ENSP00000453346.1:p.Ala684ProfsTer25
ENST00000558518.5:c.2050del	ENSP00000454071.1:p.Ala684ProfsTer25
NM_000527.4:c.2050del , LRG_274t1:c.2050del	NP_000518.1:p.Ala684ProfsTer25
NM_001195798.1:c.2050del	NP_001182727.1:p.Ala684ProfsTer25
NM_001195799.1:c.1927del	NP_001182728.1:p.Ala643ProfsTer25
NM_001195800.1:c.1546del	NP_001182729.1:p.Ala516ProfsTer25
NM_001195803.1:c.1606+199del	NP_001182732.1:n.1606+199del
XM_011528010.1:c.2050del	XP_011526312.1:p.Ala684ProfsTer25
XM_011528011.1:c.1669del	XP_011526313.1:p.Ala557ProfsTer25
XR_244074.2:n.2060del
XM_011528010.2:c.2050del	XP_011526312.1:p.Ala684ProfsTer25
XR_001753685.2:n.2167del
XR_001753686.2:n.2027del
NM_000527.5:c.2050del MANE Select	NP_000518.1:p.Ala684ProfsTer25
NM_001195798.2:c.2050del	NP_001182727.1:p.Ala684ProfsTer25
NM_001195799.2:c.1927del	NP_001182728.1:p.Ala643ProfsTer25
NM_001195800.2:c.1546del	NP_001182729.1:p.Ala516ProfsTer25
NM_001195803.2:c.1606+199del	NP_001182732.1:n.1606+199del