Canonical Allele Identifier: CA2695228172

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120427_11120434del , CM000681.2:g.11120427_11120434del	GRCh38
NC_000019.9:g.11231103_11231110del , CM000681.1:g.11231103_11231110del	GRCh37
NC_000019.8:g.11092103_11092110del	NCBI36
NG_009060.1:g.36047_36054del , LRG_274:g.36047_36054del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2303_2310del	ENSP00000252444.6:p.Leu768ProfsTer?
ENST00000559340.2:c.*114_*121del	ENSP00000453696.2:n.*114_*121del
ENST00000560467.2:c.1925_1932del	ENSP00000453513.2:p.Leu642ProfsTer?
ENST00000558518.6:c.2045_2052del MANE Select	ENSP00000454071.1:p.Leu682ProfsTer?
ENST00000252444.9:c.2299_2306del
ENST00000455727.6:c.1541_1548del	ENSP00000397829.2:p.Leu514ProfsTer?
ENST00000535915.5:c.1922_1929del	ENSP00000440520.1:p.Leu641ProfsTer?
ENST00000545707.5:c.1606+194_1606+201del	ENSP00000437639.1:n.1606+194_1606+201del
ENST00000557933.5:c.2045_2052del	ENSP00000453557.1:p.Leu682ProfsTer?
ENST00000558013.5:c.2045_2052del	ENSP00000453346.1:p.Leu682ProfsTer?
ENST00000558518.5:c.2045_2052del	ENSP00000454071.1:p.Leu682ProfsTer?
NM_000527.4:c.2045_2052del , LRG_274t1:c.2045_2052del	NP_000518.1:p.Leu682ProfsTer?
NM_001195798.1:c.2045_2052del	NP_001182727.1:p.Leu682ProfsTer?
NM_001195799.1:c.1922_1929del	NP_001182728.1:p.Leu641ProfsTer?
NM_001195800.1:c.1541_1548del	NP_001182729.1:p.Leu514ProfsTer?
NM_001195803.1:c.1606+194_1606+201del	NP_001182732.1:n.1606+194_1606+201del
XM_011528010.1:c.2045_2052del	XP_011526312.1:p.Leu682ProfsTer?
XM_011528011.1:c.1664_1671del	XP_011526313.1:p.Leu555ProfsTer?
XR_244074.2:n.2055_2062del
XM_011528010.2:c.2045_2052del	XP_011526312.1:p.Leu682ProfsTer?
XR_001753685.2:n.2162_2169del
XR_001753686.2:n.2022_2029del
NM_000527.5:c.2045_2052del MANE Select	NP_000518.1:p.Leu682ProfsTer?
NM_001195798.2:c.2045_2052del	NP_001182727.1:p.Leu682ProfsTer?
NM_001195799.2:c.1922_1929del	NP_001182728.1:p.Leu641ProfsTer?
NM_001195800.2:c.1541_1548del	NP_001182729.1:p.Leu514ProfsTer?
NM_001195803.2:c.1606+194_1606+201del	NP_001182732.1:n.1606+194_1606+201del