Canonical Allele Identifier: CA2695228123

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107465del , CM000681.2:g.11107465del	GRCh38
NC_000019.9:g.11218141del , CM000681.1:g.11218141del	GRCh37
NC_000019.8:g.11079141del	NCBI36
NG_009060.1:g.23085del , LRG_274:g.23085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1149del	ENSP00000252444.6:p.Asn383LysfsTer?
ENST00000559340.2:c.891del	ENSP00000453696.2:p.Asn297LysfsTer?
ENST00000560467.2:c.891del	ENSP00000453513.2:p.Asn297LysfsTer?
ENST00000558518.6:c.891del MANE Select	ENSP00000454071.1:p.Asn297LysfsTer?
ENST00000252444.9:c.1145del
ENST00000455727.6:c.387del	ENSP00000397829.2:p.Asn129LysfsTer?
ENST00000535915.5:c.768del	ENSP00000440520.1:p.Asn256LysfsTer?
ENST00000545707.5:c.510del	ENSP00000437639.1:p.Asn170LysfsTer?
ENST00000557933.5:c.891del	ENSP00000453557.1:p.Asn297LysfsTer?
ENST00000558013.5:c.891del	ENSP00000453346.1:p.Asn297LysfsTer?
ENST00000558518.5:c.891del	ENSP00000454071.1:p.Asn297LysfsTer?
ENST00000558528.1:n.406del
ENST00000560467.1:c.491del
NM_000527.4:c.891del , LRG_274t1:c.891del	NP_000518.1:p.Asn297LysfsTer?
NM_001195798.1:c.891del	NP_001182727.1:p.Asn297LysfsTer?
NM_001195799.1:c.768del	NP_001182728.1:p.Asn256LysfsTer?
NM_001195800.1:c.387del	NP_001182729.1:p.Asn129LysfsTer?
NM_001195803.1:c.510del	NP_001182732.1:p.Asn170LysfsTer?
XM_011528010.1:c.891del	XP_011526312.1:p.Asn297LysfsTer?
XM_011528011.1:c.510del	XP_011526313.1:p.Asn170LysfsTer?
XR_244074.2:n.1041del
XM_011528010.2:c.891del	XP_011526312.1:p.Asn297LysfsTer?
XR_001753685.2:n.1008del
XR_001753686.2:n.1008del
NM_000527.5:c.891del MANE Select	NP_000518.1:p.Asn297LysfsTer?
NM_001195798.2:c.891del	NP_001182727.1:p.Asn297LysfsTer?
NM_001195799.2:c.768del	NP_001182728.1:p.Asn256LysfsTer?
NM_001195800.2:c.387del	NP_001182729.1:p.Asn129LysfsTer?
NM_001195803.2:c.510del	NP_001182732.1:p.Asn170LysfsTer?