Canonical Allele Identifier: CA521715354

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 947831
• ClinVar RCV Id: RCV001218974 ; RCV001828742
• dbSNP Id: rs1201229554
• gnomAD v2: 1-25870253-T-TG
• gnomAD v4: 1-25543762-T-TG
• MyVariant Identifiers: chr1:g.25870254_25870255insG (hg19) ; chr1:g.25870253_25870254insG (hg19) ; chr1:g.25543763_25543764insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25543769dup , CM000663.2:g.25543769dup	GRCh38
NC_000001.10:g.25870260dup , CM000663.1:g.25870260dup	GRCh37
NC_000001.9:g.25742847dup	NCBI36
NG_008932.1:g.5185dup , LRG_276:g.5185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.71dup MANE Select	ENSP00000363458.4:p.Gly25ArgfsTer9
ENST00000374338.4:c.71dup	ENSP00000363458.4:p.Gly25ArgfsTer9
NM_015627.2:c.71dup , LRG_276t1:c.71dup	NP_056442.2:p.Gly25ArgfsTer9
XM_006710559.2:c.71dup	XP_006710622.1:p.Gly25ArgfsTer9
XM_006710560.2:c.71dup	XP_006710623.1:p.Gly25ArgfsTer9
XM_006710561.2:c.71dup	XP_006710624.1:p.Gly25ArgfsTer9
XM_011541209.1:c.71dup	XP_011539511.1:p.Gly25ArgfsTer9
XM_011541210.1:c.71dup	XP_011539512.1:p.Gly25ArgfsTer9
XM_011541211.1:c.71dup	XP_011539513.1:p.Gly25ArgfsTer9
XM_011541212.1:c.71dup	XP_011539514.1:p.Gly25ArgfsTer9
XR_426598.2:n.190dup
XR_946602.1:n.190dup
XR_946603.1:n.190dup
XM_006710559.4:c.71dup	XP_006710622.1:p.Gly25ArgfsTer9
XM_006710560.4:c.71dup	XP_006710623.1:p.Gly25ArgfsTer9
XM_006710561.4:c.71dup	XP_006710624.1:p.Gly25ArgfsTer9
XM_011541209.3:c.71dup	XP_011539511.1:p.Gly25ArgfsTer9
XM_011541210.3:c.71dup	XP_011539512.1:p.Gly25ArgfsTer9
XM_011541211.3:c.71dup	XP_011539513.1:p.Gly25ArgfsTer9
XM_011541212.3:c.71dup	XP_011539514.1:p.Gly25ArgfsTer9
XM_017000995.2:c.71dup	XP_016856484.1:p.Gly25ArgfsTer9
XR_001737112.2:n.141dup
XR_001737113.2:n.141dup
XR_002956258.1:n.141dup
XR_426598.4:n.141dup
XR_946602.3:n.141dup
XR_946603.3:n.141dup
NM_015627.3:c.71dup MANE Select	NP_056442.2:p.Gly25ArgfsTer9