Canonical Allele Identifier: CA2739272387

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 2831407
• ClinVar RCV Id: RCV003612961

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557250_25557251del , CM000663.2:g.25557250_25557251del	GRCh38
NC_000001.10:g.25883741_25883742del , CM000663.1:g.25883741_25883742del	GRCh37
NC_000001.9:g.25756328_25756329del	NCBI36
NG_008932.1:g.18666_18667del , LRG_276:g.18666_18667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.442_443del MANE Select	ENSP00000363458.4:p.Cys148HisfsTer22
ENST00000374338.4:c.442_443del	ENSP00000363458.4:p.Cys148HisfsTer22
ENST00000462394.1:n.190_191del
ENST00000488127.1:n.912_913del
NM_015627.2:c.442_443del , LRG_276t1:c.442_443del	NP_056442.2:p.Cys148HisfsTer22
XM_006710559.2:c.442_443del	XP_006710622.1:p.Cys148HisfsTer22
XM_006710560.2:c.442_443del	XP_006710623.1:p.Cys148HisfsTer22
XM_006710561.2:c.442_443del	XP_006710624.1:p.Cys148HisfsTer22
XM_011541209.1:c.442_443del	XP_011539511.1:p.Cys148HisfsTer22
XM_011541210.1:c.442_443del	XP_011539512.1:p.Cys148HisfsTer22
XM_011541211.1:c.442_443del	XP_011539513.1:p.Cys148HisfsTer22
XM_011541212.1:c.442_443del	XP_011539514.1:p.Cys148HisfsTer22
XR_426598.2:n.561_562del
XR_946602.1:n.561_562del
XR_946603.1:n.561_562del
XM_006710559.4:c.442_443del	XP_006710622.1:p.Cys148HisfsTer22
XM_006710560.4:c.442_443del	XP_006710623.1:p.Cys148HisfsTer22
XM_006710561.4:c.442_443del	XP_006710624.1:p.Cys148HisfsTer22
XM_011541209.3:c.442_443del	XP_011539511.1:p.Cys148HisfsTer22
XM_011541210.3:c.442_443del	XP_011539512.1:p.Cys148HisfsTer22
XM_011541211.3:c.442_443del	XP_011539513.1:p.Cys148HisfsTer22
XM_011541212.3:c.442_443del	XP_011539514.1:p.Cys148HisfsTer22
XM_017000994.2:c.361_362del	XP_016856483.1:p.Cys121HisfsTer22
XM_017000995.2:c.442_443del	XP_016856484.1:p.Cys148HisfsTer?
XM_024446315.1:c.307_308del	XP_024302083.1:p.Cys103HisfsTer22
XR_001737112.2:n.512_513del
XR_001737113.2:n.512_513del
XR_002956258.1:n.512_513del
XR_426598.4:n.512_513del
XR_946602.3:n.512_513del
XR_946603.3:n.512_513del
NM_015627.3:c.442_443del MANE Select	NP_056442.2:p.Cys148HisfsTer22