Canonical Allele Identifier: CA521715353

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 468290
• ClinVar RCV Id: RCV000560474 ; RCV000993947 ; RCV001829587
• dbSNP Id: rs1201229554
• gnomAD v2: 1-25870253-TG-T
• gnomAD v3: 1-25543762-TG-T
• gnomAD v4: 1-25543762-TG-T
• MyVariant Identifiers: chr1:g.25870260del (hg19) ; chr1:g.25870254del (hg19) ; chr1:g.25543769del (hg38) ; chr1:g.25543763del (hg38)
• PubMed: PMID:11326085

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374338.5:c.71del MANE Select	ENSP00000363458.4:p.Gly24AlafsTer?
ENST00000374338.4:c.71del	ENSP00000363458.4:p.Gly24AlafsTer?
NM_015627.2:c.71del , LRG_276t1:c.71del	NP_056442.2:p.Gly24AlafsTer?
XM_006710559.2:c.71del	XP_006710622.1:p.Gly24AlafsTer?
XM_006710560.2:c.71del	XP_006710623.1:p.Gly24AlafsTer?
XM_006710561.2:c.71del	XP_006710624.1:p.Gly24AlafsTer?
XM_011541209.1:c.71del	XP_011539511.1:p.Gly24AlafsTer?
XM_011541210.1:c.71del	XP_011539512.1:p.Gly24AlafsTer?
XM_011541211.1:c.71del	XP_011539513.1:p.Gly24AlafsTer?
XM_011541212.1:c.71del	XP_011539514.1:p.Gly24AlafsTer?
XR_426598.2:n.190del
XR_946602.1:n.190del
XR_946603.1:n.190del
XM_006710559.4:c.71del	XP_006710622.1:p.Gly24AlafsTer?
XM_006710560.4:c.71del	XP_006710623.1:p.Gly24AlafsTer?
XM_006710561.4:c.71del	XP_006710624.1:p.Gly24AlafsTer?
XM_011541209.3:c.71del	XP_011539511.1:p.Gly24AlafsTer?
XM_011541210.3:c.71del	XP_011539512.1:p.Gly24AlafsTer?
XM_011541211.3:c.71del	XP_011539513.1:p.Gly24AlafsTer?
XM_011541212.3:c.71del	XP_011539514.1:p.Gly24AlafsTer?
XM_017000995.2:c.71del	XP_016856484.1:p.Gly24AlafsTer?
XR_001737112.2:n.141del
XR_001737113.2:n.141del
XR_002956258.1:n.141del
XR_426598.4:n.141del
XR_946602.3:n.141del
XR_946603.3:n.141del
NM_015627.3:c.71del MANE Select	NP_056442.2:p.Gly24AlafsTer?