Canonical Allele Identifier: CA2322773695

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116920_11116926delinsTGTCAAC , CM000681.2:g.11116920_11116926delinsTGTCAAC	GRCh38
NC_000019.9:g.11227596_11227602delinsTGTCAAC , CM000681.1:g.11227596_11227602delinsTGTCAAC	GRCh37
NC_000019.8:g.11088596_11088602delinsTGTCAAC	NCBI36
NG_009060.1:g.32540_32546delinsTGTCAAC , LRG_274:g.32540_32546delinsTGTCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2025_2031delinsTGTCAAC	ENSP00000252444.6:p.Asp675=
ENST00000559340.2:c.1705+708_1705+714delinsTGTCAAC	ENSP00000453696.2:n.1705+708_1705+714delinsTGTCAAC
ENST00000560467.2:c.1647_1653delinsTGTCAAC	ENSP00000453513.2:p.Asp549=
ENST00000558518.6:c.1767_1773delinsTGTCAAC MANE Select	ENSP00000454071.1:p.Asp589=
ENST00000252444.9:c.2021_2027delinsTGTCAAC
ENST00000455727.6:c.1263_1269delinsTGTCAAC	ENSP00000397829.2:p.Asp421=
ENST00000535915.5:c.1644_1650delinsTGTCAAC	ENSP00000440520.1:p.Asp548=
ENST00000545707.5:c.1386_1392delinsTGTCAAC	ENSP00000437639.1:p.Asp462=
ENST00000557933.5:c.1767_1773delinsTGTCAAC	ENSP00000453557.1:p.Asp589=
ENST00000558013.5:c.1767_1773delinsTGTCAAC	ENSP00000453346.1:p.Asp589=
ENST00000558518.5:c.1767_1773delinsTGTCAAC	ENSP00000454071.1:p.Asp589=
ENST00000559340.1:c.426+708_426+714delinsTGTCAAC
NM_000527.4:c.1767_1773delinsTGTCAAC , LRG_274t1:c.1767_1773delinsTGTCAAC	NP_000518.1:p.Asp589=
NM_001195798.1:c.1767_1773delinsTGTCAAC	NP_001182727.1:p.Asp589=
NM_001195799.1:c.1644_1650delinsTGTCAAC	NP_001182728.1:p.Asp548=
NM_001195800.1:c.1263_1269delinsTGTCAAC	NP_001182729.1:p.Asp421=
NM_001195803.1:c.1386_1392delinsTGTCAAC	NP_001182732.1:p.Asp462=
XM_011528010.1:c.1767_1773delinsTGTCAAC	XP_011526312.1:p.Asp589=
XM_011528011.1:c.1386_1392delinsTGTCAAC	XP_011526313.1:p.Asp462=
XR_244074.2:n.1855+708_1855+714delinsTGTCAAC
XM_011528010.2:c.1767_1773delinsTGTCAAC	XP_011526312.1:p.Asp589=
XR_001753685.2:n.1884_1890delinsTGTCAAC
XR_001753686.2:n.1822+708_1822+714delinsTGTCAAC
NM_000527.5:c.1767_1773delinsTGTCAAC MANE Select	NP_000518.1:p.Asp589=
NM_001195798.2:c.1767_1773delinsTGTCAAC	NP_001182727.1:p.Asp589=
NM_001195799.2:c.1644_1650delinsTGTCAAC	NP_001182728.1:p.Asp548=
NM_001195800.2:c.1263_1269delinsTGTCAAC	NP_001182729.1:p.Asp421=
NM_001195803.2:c.1386_1392delinsTGTCAAC	NP_001182732.1:p.Asp462=