Canonical Allele Identifier: CA2322773701
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116926_11116929delinsCGGG , CM000681.2:g.11116926_11116929delinsCGGG GRCh38
NC_000019.9:g.11227602_11227605delinsCGGG , CM000681.1:g.11227602_11227605delinsCGGG GRCh37
NC_000019.8:g.11088602_11088605delinsCGGG NCBI36
NG_009060.1:g.32546_32549delinsCGGG , LRG_274:g.32546_32549delinsCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2031_2034delinsCGGG ENSP00000252444.6:p.Asn677=
ENST00000559340.2:c.1705+714_1705+717delinsCGGG ENSP00000453696.2:n.1705+714_1705+717delinsCGGG
ENST00000560467.2:c.1653_1656delinsCGGG ENSP00000453513.2:p.Asn551=
ENST00000558518.6:c.1773_1776delinsCGGG MANE Select ENSP00000454071.1:p.Asn591=
ENST00000252444.9:c.2027_2030delinsCGGG
ENST00000455727.6:c.1269_1272delinsCGGG ENSP00000397829.2:p.Asn423=
ENST00000535915.5:c.1650_1653delinsCGGG ENSP00000440520.1:p.Asn550=
ENST00000545707.5:c.1392_1395delinsCGGG ENSP00000437639.1:p.Asn464=
ENST00000557933.5:c.1773_1776delinsCGGG ENSP00000453557.1:p.Asn591=
ENST00000558013.5:c.1773_1776delinsCGGG ENSP00000453346.1:p.Asn591=
ENST00000558518.5:c.1773_1776delinsCGGG ENSP00000454071.1:p.Asn591=
ENST00000559340.1:c.426+714_426+717delinsCGGG
NM_000527.4:c.1773_1776delinsCGGG , LRG_274t1:c.1773_1776delinsCGGG NP_000518.1:p.Asn591=
NM_001195798.1:c.1773_1776delinsCGGG NP_001182727.1:p.Asn591=
NM_001195799.1:c.1650_1653delinsCGGG NP_001182728.1:p.Asn550=
NM_001195800.1:c.1269_1272delinsCGGG NP_001182729.1:p.Asn423=
NM_001195803.1:c.1392_1395delinsCGGG NP_001182732.1:p.Asn464=
XM_011528010.1:c.1773_1776delinsCGGG XP_011526312.1:p.Asn591=
XM_011528011.1:c.1392_1395delinsCGGG XP_011526313.1:p.Asn464=
XR_244074.2:n.1855+714_1855+717delinsCGGG
XM_011528010.2:c.1773_1776delinsCGGG XP_011526312.1:p.Asn591=
XR_001753685.2:n.1890_1893delinsCGGG
XR_001753686.2:n.1822+714_1822+717delinsCGGG
NM_000527.5:c.1773_1776delinsCGGG MANE Select NP_000518.1:p.Asn591=
NM_001195798.2:c.1773_1776delinsCGGG NP_001182727.1:p.Asn591=
NM_001195799.2:c.1650_1653delinsCGGG NP_001182728.1:p.Asn550=
NM_001195800.2:c.1269_1272delinsCGGG NP_001182729.1:p.Asn423=
NM_001195803.2:c.1392_1395delinsCGGG NP_001182732.1:p.Asn464=