Canonical Allele Identifier: CA645373244

Gene: LDLR

Linked Data

• ClinVar Variation Id: 430788
• ClinVar RCV Id: RCV000495870
• dbSNP Id: rs1555806546
• MyVariant Identifiers: chr19:g.11227658_11227669dup (hg19) ; chr19:g.11116982_11116993dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116982_11116993dup , CM000681.2:g.11116982_11116993dup	GRCh38
NC_000019.9:g.11227658_11227669dup , CM000681.1:g.11227658_11227669dup	GRCh37
NC_000019.8:g.11088658_11088669dup	NCBI36
NG_009060.1:g.32602_32613dup , LRG_274:g.32602_32613dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2087_2098dup	ENSP00000252444.6:p.Val699_Phe700insSerLeuAlaVal
ENST00000559340.2:c.1705+770_1705+781dup	ENSP00000453696.2:n.1705+770_1705+781dup
ENST00000560467.2:c.1709_1720dup	ENSP00000453513.2:p.Val573_Phe574insSerLeuAlaVal
ENST00000558518.6:c.1829_1840dup MANE Select	ENSP00000454071.1:p.Val613_Phe614insSerLeuAlaVal
ENST00000252444.9:c.2083_2094dup
ENST00000455727.6:c.1325_1336dup	ENSP00000397829.2:p.Val445_Phe446insSerLeuAlaVal
ENST00000535915.5:c.1706_1717dup	ENSP00000440520.1:p.Val572_Phe573insSerLeuAlaVal
ENST00000545707.5:c.1448_1459dup	ENSP00000437639.1:p.Val486_Phe487insSerLeuAlaVal
ENST00000557933.5:c.1829_1840dup	ENSP00000453557.1:p.Val613_Phe614insSerLeuAlaVal
ENST00000558013.5:c.1829_1840dup	ENSP00000453346.1:p.Val613_Phe614insSerLeuAlaVal
ENST00000558518.5:c.1829_1840dup	ENSP00000454071.1:p.Val613_Phe614insSerLeuAlaVal
ENST00000559340.1:c.426+770_426+781dup
NM_000527.4:c.1829_1840dup , LRG_274t1:c.1829_1840dup	NP_000518.1:p.Val613_Phe614insSerLeuAlaVal
NM_001195798.1:c.1829_1840dup	NP_001182727.1:p.Val613_Phe614insSerLeuAlaVal
NM_001195799.1:c.1706_1717dup	NP_001182728.1:p.Val572_Phe573insSerLeuAlaVal
NM_001195800.1:c.1325_1336dup	NP_001182729.1:p.Val445_Phe446insSerLeuAlaVal
NM_001195803.1:c.1448_1459dup	NP_001182732.1:p.Val486_Phe487insSerLeuAlaVal
XM_011528010.1:c.1829_1840dup	XP_011526312.1:p.Val613_Phe614insSerLeuAlaVal
XM_011528011.1:c.1448_1459dup	XP_011526313.1:p.Val486_Phe487insSerLeuAlaVal
XR_244074.2:n.1855+770_1855+781dup
XM_011528010.2:c.1829_1840dup	XP_011526312.1:p.Val613_Phe614insSerLeuAlaVal
XR_001753685.2:n.1946_1957dup
XR_001753686.2:n.1822+770_1822+781dup
NM_000527.5:c.1829_1840dup MANE Select	NP_000518.1:p.Val613_Phe614insSerLeuAlaVal
NM_001195798.2:c.1829_1840dup	NP_001182727.1:p.Val613_Phe614insSerLeuAlaVal
NM_001195799.2:c.1706_1717dup	NP_001182728.1:p.Val572_Phe573insSerLeuAlaVal
NM_001195800.2:c.1325_1336dup	NP_001182729.1:p.Val445_Phe446insSerLeuAlaVal
NM_001195803.2:c.1448_1459dup	NP_001182732.1:p.Val486_Phe487insSerLeuAlaVal