Canonical Allele Identifier: CA2695228321

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128032_11128033del , CM000681.2:g.11128032_11128033del	GRCh38
NC_000019.9:g.11238708_11238709del , CM000681.1:g.11238708_11238709del	GRCh37
NC_000019.8:g.11099708_11099709del	NCBI36
NG_009060.1:g.43652_43653del , LRG_274:g.43652_43653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2594_2595del	ENSP00000252444.6:p.Gly865GlufsTer2
ENST00000559340.2:c.*405_*406del	ENSP00000453696.2:n.*405_*406del
ENST00000560467.2:c.2216_2217del	ENSP00000453513.2:p.Gly739GlufsTer2
ENST00000558518.6:c.2336_2337del MANE Select	ENSP00000454071.1:p.Gly779GlufsTer2
ENST00000252444.9:c.2590_2591del
ENST00000455727.6:c.1832_1833del	ENSP00000397829.2:p.Gly611GlufsTer2
ENST00000535915.5:c.2213_2214del	ENSP00000440520.1:p.Gly738GlufsTer2
ENST00000545707.5:c.1802_1803del	ENSP00000437639.1:p.Gly601GlufsTer2
ENST00000557933.5:c.2336_2337del	ENSP00000453557.1:p.Gly779GlufsTer2
ENST00000558013.5:c.2336_2337del	ENSP00000453346.1:p.Gly779GlufsTer2
ENST00000558518.5:c.2336_2337del	ENSP00000454071.1:p.Gly779GlufsTer2
ENST00000560628.1:n.108+378_108+379del
NM_000527.4:c.2336_2337del , LRG_274t1:c.2336_2337del	NP_000518.1:p.Gly779GlufsTer2
NM_001195798.1:c.2336_2337del	NP_001182727.1:p.Gly779GlufsTer2
NM_001195799.1:c.2213_2214del	NP_001182728.1:p.Gly738GlufsTer2
NM_001195800.1:c.1832_1833del	NP_001182729.1:p.Gly611GlufsTer2
NM_001195803.1:c.1802_1803del	NP_001182732.1:p.Gly601GlufsTer2
XM_011528010.1:c.2312-1481_2312-1480del	XP_011526312.1:n.2312-1481_2312-1480del
XM_011528011.1:c.1955_1956del	XP_011526313.1:p.Gly652GlufsTer2
XR_244074.2:n.2346_2347del
XM_011528010.2:c.2312-1481_2312-1480del	XP_011526312.1:n.2312-1481_2312-1480del
XR_001753685.2:n.2670_2671del
XR_001753686.2:n.2313_2314del
NM_000527.5:c.2336_2337del MANE Select	NP_000518.1:p.Gly779GlufsTer2
NM_001195798.2:c.2336_2337del	NP_001182727.1:p.Gly779GlufsTer2
NM_001195799.2:c.2213_2214del	NP_001182728.1:p.Gly738GlufsTer2
NM_001195800.2:c.1832_1833del	NP_001182729.1:p.Gly611GlufsTer2
NM_001195803.2:c.1802_1803del	NP_001182732.1:p.Gly601GlufsTer2