Canonical Allele Identifier: CA2695228171

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120393_11120396del , CM000681.2:g.11120393_11120396del	GRCh38
NC_000019.9:g.11231069_11231072del , CM000681.1:g.11231069_11231072del	GRCh37
NC_000019.8:g.11092069_11092072del	NCBI36
NG_009060.1:g.36013_36016del , LRG_274:g.36013_36016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2269_2272del	ENSP00000252444.6:p.Thr757Ter
ENST00000559340.2:c.*80_*83del	ENSP00000453696.2:n.*80_*83del
ENST00000560467.2:c.1891_1894del	ENSP00000453513.2:p.Thr631Ter
ENST00000558518.6:c.2011_2014del MANE Select	ENSP00000454071.1:p.Thr671Ter
ENST00000252444.9:c.2265_2268del
ENST00000455727.6:c.1507_1510del	ENSP00000397829.2:p.Thr503Ter
ENST00000535915.5:c.1888_1891del	ENSP00000440520.1:p.Thr630Ter
ENST00000545707.5:c.1606+160_1606+163del	ENSP00000437639.1:n.1606+160_1606+163del
ENST00000557933.5:c.2011_2014del	ENSP00000453557.1:p.Thr671Ter
ENST00000558013.5:c.2011_2014del	ENSP00000453346.1:p.Thr671Ter
ENST00000558518.5:c.2011_2014del	ENSP00000454071.1:p.Thr671Ter
ENST00000559340.1:c.592_595del
NM_000527.4:c.2011_2014del , LRG_274t1:c.2011_2014del	NP_000518.1:p.Thr671Ter
NM_001195798.1:c.2011_2014del	NP_001182727.1:p.Thr671Ter
NM_001195799.1:c.1888_1891del	NP_001182728.1:p.Thr630Ter
NM_001195800.1:c.1507_1510del	NP_001182729.1:p.Thr503Ter
NM_001195803.1:c.1606+160_1606+163del	NP_001182732.1:n.1606+160_1606+163del
XM_011528010.1:c.2011_2014del	XP_011526312.1:p.Thr671Ter
XM_011528011.1:c.1630_1633del	XP_011526313.1:p.Thr544Ter
XR_244074.2:n.2021_2024del
XM_011528010.2:c.2011_2014del	XP_011526312.1:p.Thr671Ter
XR_001753685.2:n.2128_2131del
XR_001753686.2:n.1988_1991del
NM_000527.5:c.2011_2014del MANE Select	NP_000518.1:p.Thr671Ter
NM_001195798.2:c.2011_2014del	NP_001182727.1:p.Thr671Ter
NM_001195799.2:c.1888_1891del	NP_001182728.1:p.Thr630Ter
NM_001195800.2:c.1507_1510del	NP_001182729.1:p.Thr503Ter
NM_001195803.2:c.1606+160_1606+163del	NP_001182732.1:n.1606+160_1606+163del