Canonical Allele Identifier: CA645373255

Gene: LDLR

Linked Data

• ClinVar Variation Id: 430767
• ClinVar RCV Id: RCV000495864
• dbSNP Id: rs1131692202
• MyVariant Identifiers: chr19:g.11218132_11218133del (hg19) ; chr19:g.11107456_11107457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107456_11107457del , CM000681.2:g.11107456_11107457del	GRCh38
NC_000019.9:g.11218132_11218133del , CM000681.1:g.11218132_11218133del	GRCh37
NC_000019.8:g.11079132_11079133del	NCBI36
NG_009060.1:g.23076_23077del , LRG_274:g.23076_23077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1140_1141del	ENSP00000252444.6:p.Lys380AsnfsTer6
ENST00000559340.2:c.882_883del	ENSP00000453696.2:p.Lys294AsnfsTer6
ENST00000560467.2:c.882_883del	ENSP00000453513.2:p.Lys294AsnfsTer6
ENST00000558518.6:c.882_883del MANE Select	ENSP00000454071.1:p.Lys294AsnfsTer6
ENST00000252444.9:c.1136_1137del
ENST00000455727.6:c.378_379del	ENSP00000397829.2:p.Lys126AsnfsTer6
ENST00000535915.5:c.759_760del	ENSP00000440520.1:p.Lys253AsnfsTer6
ENST00000545707.5:c.501_502del	ENSP00000437639.1:p.Lys167AsnfsTer6
ENST00000557933.5:c.882_883del	ENSP00000453557.1:p.Lys294AsnfsTer6
ENST00000558013.5:c.882_883del	ENSP00000453346.1:p.Lys294AsnfsTer6
ENST00000558518.5:c.882_883del	ENSP00000454071.1:p.Lys294AsnfsTer6
ENST00000558528.1:n.397_398del
ENST00000560467.1:c.482_483del
NM_000527.4:c.882_883del , LRG_274t1:c.882_883del	NP_000518.1:p.Lys294AsnfsTer6
NM_001195798.1:c.882_883del	NP_001182727.1:p.Lys294AsnfsTer6
NM_001195799.1:c.759_760del	NP_001182728.1:p.Lys253AsnfsTer6
NM_001195800.1:c.378_379del	NP_001182729.1:p.Lys126AsnfsTer6
NM_001195803.1:c.501_502del	NP_001182732.1:p.Lys167AsnfsTer6
XM_011528010.1:c.882_883del	XP_011526312.1:p.Lys294AsnfsTer6
XM_011528011.1:c.501_502del	XP_011526313.1:p.Lys167AsnfsTer6
XR_244074.2:n.1032_1033del
XM_011528010.2:c.882_883del	XP_011526312.1:p.Lys294AsnfsTer6
XR_001753685.2:n.999_1000del
XR_001753686.2:n.999_1000del
NM_000527.5:c.882_883del MANE Select	NP_000518.1:p.Lys294AsnfsTer6
NM_001195798.2:c.882_883del	NP_001182727.1:p.Lys294AsnfsTer6
NM_001195799.2:c.759_760del	NP_001182728.1:p.Lys253AsnfsTer6
NM_001195800.2:c.378_379del	NP_001182729.1:p.Lys126AsnfsTer6
NM_001195803.2:c.501_502del	NP_001182732.1:p.Lys167AsnfsTer6