Canonical Allele Identifier: CA658820996
Gene: LDLRAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4774
ClinVar RCV Id: RCV000005040
dbSNP Id: rs1557703339

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25557240_25557241insA , CM000663.2:g.25557240_25557241insA GRCh38
NC_000001.10:g.25883731_25883732insA , CM000663.1:g.25883731_25883732insA GRCh37
NC_000001.9:g.25756318_25756319insA NCBI36
NG_008932.1:g.18656_18657insA , LRG_276:g.18656_18657insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374338.5:c.432_433insA MANE Select ENSP00000363458.4:p.Ala145SerfsTer26
ENST00000374338.4:c.432_433insA ENSP00000363458.4:p.Ala145SerfsTer26
ENST00000462394.1:n.180_181insA
ENST00000488127.1:n.902_903insA
NM_015627.2:c.432_433insA , LRG_276t1:c.432_433insA NP_056442.2:p.Ala145SerfsTer26
XM_006710559.2:c.432_433insA XP_006710622.1:p.Ala145SerfsTer26
XM_006710560.2:c.432_433insA XP_006710623.1:p.Ala145SerfsTer26
XM_006710561.2:c.432_433insA XP_006710624.1:p.Ala145SerfsTer26
XM_011541209.1:c.432_433insA XP_011539511.1:p.Ala145SerfsTer26
XM_011541210.1:c.432_433insA XP_011539512.1:p.Ala145SerfsTer26
XM_011541211.1:c.432_433insA XP_011539513.1:p.Ala145SerfsTer26
XM_011541212.1:c.432_433insA XP_011539514.1:p.Ala145SerfsTer26
XR_426598.2:n.551_552insA
XR_946602.1:n.551_552insA
XR_946603.1:n.551_552insA
XM_006710559.4:c.432_433insA XP_006710622.1:p.Ala145SerfsTer26
XM_006710560.4:c.432_433insA XP_006710623.1:p.Ala145SerfsTer26
XM_006710561.4:c.432_433insA XP_006710624.1:p.Ala145SerfsTer26
XM_011541209.3:c.432_433insA XP_011539511.1:p.Ala145SerfsTer26
XM_011541210.3:c.432_433insA XP_011539512.1:p.Ala145SerfsTer26
XM_011541211.3:c.432_433insA XP_011539513.1:p.Ala145SerfsTer26
XM_011541212.3:c.432_433insA XP_011539514.1:p.Ala145SerfsTer26
XM_017000994.2:c.351_352insA XP_016856483.1:p.Ala118SerfsTer26
XM_017000995.2:c.432_433insA XP_016856484.1:p.Ala145SerfsTer?
XM_024446315.1:c.297_298insA XP_024302083.1:p.Ala100SerfsTer26
XR_001737112.2:n.502_503insA
XR_001737113.2:n.502_503insA
XR_002956258.1:n.502_503insA
XR_426598.4:n.502_503insA
XR_946602.3:n.502_503insA
XR_946603.3:n.502_503insA
NM_015627.3:c.432_433insA MANE Select NP_056442.2:p.Ala145SerfsTer26