Canonical Allele Identifier: CA036098

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2971852
• ClinVar RCV Id: RCV003832914
• dbSNP Id: rs772492150
• ExAC: 19:11227536 TCTC / T
• gnomAD v2: 19-11227536-TCTC-T
• gnomAD v4: 19-11116860-TCTC-T
• MyVariant Identifiers: chr19:g.11227537_11227539del (hg19) ; chr19:g.11116861_11116863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116864_11116866del , CM000681.2:g.11116864_11116866del	GRCh38
NC_000019.9:g.11227540_11227542del , CM000681.1:g.11227540_11227542del	GRCh37
NC_000019.8:g.11088540_11088542del	NCBI36
NG_009060.1:g.32484_32486del , LRG_274:g.32484_32486del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1969_1971del	ENSP00000252444.6:p.Leu657del
ENST00000559340.2:c.1705+652_1705+654del	ENSP00000453696.2:n.1705+652_1705+654del
ENST00000560467.2:c.1591_1593del	ENSP00000453513.2:p.Leu531del
ENST00000558518.6:c.1711_1713del MANE Select	ENSP00000454071.1:p.Leu571del
ENST00000252444.9:c.1965_1967del
ENST00000455727.6:c.1207_1209del	ENSP00000397829.2:p.Leu403del
ENST00000535915.5:c.1588_1590del	ENSP00000440520.1:p.Leu530del
ENST00000545707.5:c.1330_1332del	ENSP00000437639.1:p.Leu444del
ENST00000557933.5:c.1711_1713del	ENSP00000453557.1:p.Leu571del
ENST00000558013.5:c.1711_1713del	ENSP00000453346.1:p.Leu571del
ENST00000558518.5:c.1711_1713del	ENSP00000454071.1:p.Leu571del
ENST00000559340.1:c.426+652_426+654del
NM_000527.4:c.1711_1713del , LRG_274t1:c.1711_1713del	NP_000518.1:p.Leu571del
NM_001195798.1:c.1711_1713del	NP_001182727.1:p.Leu571del
NM_001195799.1:c.1588_1590del	NP_001182728.1:p.Leu530del
NM_001195800.1:c.1207_1209del	NP_001182729.1:p.Leu403del
NM_001195803.1:c.1330_1332del	NP_001182732.1:p.Leu444del
XM_011528010.1:c.1711_1713del	XP_011526312.1:p.Leu571del
XM_011528011.1:c.1330_1332del	XP_011526313.1:p.Leu444del
XR_244074.2:n.1855+652_1855+654del
XM_011528010.2:c.1711_1713del	XP_011526312.1:p.Leu571del
XR_001753685.2:n.1828_1830del
XR_001753686.2:n.1822+652_1822+654del
NM_000527.5:c.1711_1713del MANE Select	NP_000518.1:p.Leu571del
NM_001195798.2:c.1711_1713del	NP_001182727.1:p.Leu571del
NM_001195799.2:c.1588_1590del	NP_001182728.1:p.Leu530del
NM_001195800.2:c.1207_1209del	NP_001182729.1:p.Leu403del
NM_001195803.2:c.1330_1332del	NP_001182732.1:p.Leu444del