Canonical Allele Identifier: CA2322765767

Gene: LDLR

Linked Data

• dbSNP Id: rs2077223998

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102277_11102290del , CM000681.2:g.11102277_11102290del	GRCh38
NC_000019.9:g.11212953_11212966del , CM000681.1:g.11212953_11212966del	GRCh37
NC_000019.8:g.11073953_11073966del	NCBI36
NG_009060.1:g.17897_17910del , LRG_274:g.17897_17910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-387_449-374del	ENSP00000252444.6:n.449-387_449-374del
ENST00000559340.2:c.191-387_191-374del	ENSP00000453696.2:n.191-387_191-374del
ENST00000560467.2:c.191-387_191-374del	ENSP00000453513.2:n.191-387_191-374del
ENST00000558518.6:c.191-387_191-374del MANE Select	ENSP00000454071.1:n.191-387_191-374del
ENST00000252444.9:c.445-387_445-374del
ENST00000455727.6:c.191-387_191-374del	ENSP00000397829.2:n.191-387_191-374del
ENST00000535915.5:c.190+1932_190+1945del	ENSP00000440520.1:n.190+1932_190+1945del
ENST00000545707.5:c.191-387_191-374del	ENSP00000437639.1:n.191-387_191-374del
ENST00000557933.5:c.191-387_191-374del	ENSP00000453557.1:n.191-387_191-374del
ENST00000557958.1:n.277-387_277-374del
ENST00000558013.5:c.191-387_191-374del	ENSP00000453346.1:n.191-387_191-374del
ENST00000558518.5:c.191-387_191-374del	ENSP00000454071.1:n.191-387_191-374del
NM_000527.4:c.191-387_191-374del , LRG_274t1:c.191-387_191-374del	NP_000518.1:n.191-387_191-374del
NM_001195798.1:c.191-387_191-374del	NP_001182727.1:n.191-387_191-374del
NM_001195799.1:c.190+1932_190+1945del	NP_001182728.1:n.190+1932_190+1945del
NM_001195800.1:c.191-387_191-374del	NP_001182729.1:n.191-387_191-374del
NM_001195803.1:c.191-387_191-374del	NP_001182732.1:n.191-387_191-374del
XM_011528010.1:c.191-387_191-374del	XP_011526312.1:n.191-387_191-374del
XM_011528011.1:c.191-387_191-374del	XP_011526313.1:n.191-387_191-374del
XR_244074.2:n.341-387_341-374del
XM_011528010.2:c.191-387_191-374del	XP_011526312.1:n.191-387_191-374del
XR_001753685.2:n.308-387_308-374del
XR_001753686.2:n.308-387_308-374del
NM_000527.5:c.191-387_191-374del MANE Select	NP_000518.1:n.191-387_191-374del
NM_001195798.2:c.191-387_191-374del	NP_001182727.1:n.191-387_191-374del
NM_001195799.2:c.190+1932_190+1945del	NP_001182728.1:n.190+1932_190+1945del
NM_001195800.2:c.191-387_191-374del	NP_001182729.1:n.191-387_191-374del
NM_001195803.2:c.191-387_191-374del	NP_001182732.1:n.191-387_191-374del