Canonical Allele Identifier: CA2695238654
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105465_11105468dup , CM000681.2:g.11105465_11105468dup GRCh38
NC_000019.9:g.11216141_11216144dup , CM000681.1:g.11216141_11216144dup GRCh37
NC_000019.8:g.11077141_11077144dup NCBI36
NG_009060.1:g.21085_21088dup , LRG_274:g.21085_21088dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.817_820dup ENSP00000252444.6:p.Tyr274SerfsTer9
ENST00000559340.2:c.559_562dup ENSP00000453696.2:p.Tyr188SerfsTer9
ENST00000560467.2:c.559_562dup ENSP00000453513.2:p.Tyr188SerfsTer9
ENST00000558518.6:c.559_562dup MANE Select ENSP00000454071.1:p.Tyr188SerfsTer9
ENST00000252444.9:c.813_816dup
ENST00000455727.6:c.314-1927_314-1924dup ENSP00000397829.2:n.314-1927_314-1924dup
ENST00000535915.5:c.436_439dup ENSP00000440520.1:p.Tyr147SerfsTer9
ENST00000545707.5:c.314-1100_314-1097dup ENSP00000437639.1:n.314-1100_314-1097dup
ENST00000557933.5:c.559_562dup ENSP00000453557.1:p.Tyr188SerfsTer9
ENST00000558013.5:c.559_562dup ENSP00000453346.1:p.Tyr188SerfsTer9
ENST00000558518.5:c.559_562dup ENSP00000454071.1:p.Tyr188SerfsTer9
ENST00000560467.1:c.159_162dup
NM_000527.4:c.559_562dup , LRG_274t1:c.559_562dup NP_000518.1:p.Tyr188SerfsTer9
NM_001195798.1:c.559_562dup NP_001182727.1:p.Tyr188SerfsTer9
NM_001195799.1:c.436_439dup NP_001182728.1:p.Tyr147SerfsTer9
NM_001195800.1:c.314-1927_314-1924dup NP_001182729.1:n.314-1927_314-1924dup
NM_001195803.1:c.314-1100_314-1097dup NP_001182732.1:n.314-1100_314-1097dup
XM_011528010.1:c.559_562dup XP_011526312.1:p.Tyr188SerfsTer9
XM_011528011.1:c.314-1100_314-1097dup XP_011526313.1:n.314-1100_314-1097dup
XR_244074.2:n.709_712dup
XM_011528010.2:c.559_562dup XP_011526312.1:p.Tyr188SerfsTer9
XR_001753685.2:n.676_679dup
XR_001753686.2:n.676_679dup
NM_000527.5:c.559_562dup MANE Select NP_000518.1:p.Tyr188SerfsTer9
NM_001195798.2:c.559_562dup NP_001182727.1:p.Tyr188SerfsTer9
NM_001195799.2:c.436_439dup NP_001182728.1:p.Tyr147SerfsTer9
NM_001195800.2:c.314-1927_314-1924dup NP_001182729.1:n.314-1927_314-1924dup
NM_001195803.2:c.314-1100_314-1097dup NP_001182732.1:n.314-1100_314-1097dup