Canonical Allele Identifier: CA404080487

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11107395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107395del , CM000681.2:g.11107395del	GRCh38
NC_000019.9:g.11218071del , CM000681.1:g.11218071del	GRCh37
NC_000019.8:g.11079071del	NCBI36
NG_009060.1:g.23015del , LRG_274:g.23015del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1079del	ENSP00000252444.6:p.Thr360AsnfsTer?
ENST00000559340.2:c.821del	ENSP00000453696.2:p.Thr274AsnfsTer?
ENST00000560467.2:c.821del	ENSP00000453513.2:p.Thr274AsnfsTer?
ENST00000558518.6:c.821del MANE Select	ENSP00000454071.1:p.Thr274AsnfsTer?
ENST00000252444.9:c.1075del
ENST00000455727.6:c.317del	ENSP00000397829.2:p.Thr106AsnfsTer?
ENST00000535915.5:c.698del	ENSP00000440520.1:p.Thr233AsnfsTer?
ENST00000545707.5:c.440del	ENSP00000437639.1:p.Thr147AsnfsTer?
ENST00000557933.5:c.821del	ENSP00000453557.1:p.Thr274AsnfsTer?
ENST00000558013.5:c.821del	ENSP00000453346.1:p.Thr274AsnfsTer?
ENST00000558518.5:c.821del	ENSP00000454071.1:p.Thr274AsnfsTer?
ENST00000558528.1:n.336del
ENST00000560467.1:c.421del
NM_000527.4:c.821del , LRG_274t1:c.821del	NP_000518.1:p.Thr274AsnfsTer?
NM_001195798.1:c.821del	NP_001182727.1:p.Thr274AsnfsTer?
NM_001195799.1:c.698del	NP_001182728.1:p.Thr233AsnfsTer?
NM_001195800.1:c.317del	NP_001182729.1:p.Thr106AsnfsTer?
NM_001195803.1:c.440del	NP_001182732.1:p.Thr147AsnfsTer?
XM_011528010.1:c.821del	XP_011526312.1:p.Thr274AsnfsTer?
XM_011528011.1:c.440del	XP_011526313.1:p.Thr147AsnfsTer?
XR_244074.2:n.971del
XM_011528010.2:c.821del	XP_011526312.1:p.Thr274AsnfsTer?
XR_001753685.2:n.938del
XR_001753686.2:n.938del
NM_000527.5:c.821del MANE Select	NP_000518.1:p.Thr274AsnfsTer?
NM_001195798.2:c.821del	NP_001182727.1:p.Thr274AsnfsTer?
NM_001195799.2:c.698del	NP_001182728.1:p.Thr233AsnfsTer?
NM_001195800.2:c.317del	NP_001182729.1:p.Thr106AsnfsTer?
NM_001195803.2:c.440del	NP_001182732.1:p.Thr147AsnfsTer?