Canonical Allele Identifier: CA2322775591
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120436_11120437delinsCG , CM000681.2:g.11120436_11120437delinsCG GRCh38
NC_000019.9:g.11231112_11231113delinsCG , CM000681.1:g.11231112_11231113delinsCG GRCh37
NC_000019.8:g.11092112_11092113delinsCG NCBI36
NG_009060.1:g.36056_36057delinsCG , LRG_274:g.36056_36057delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2312_2313delinsCG ENSP00000252444.6:p.Pro771=
ENST00000559340.2:c.*123_*124delinsCG ENSP00000453696.2:n.*123_*124delinsCG
ENST00000560467.2:c.1934_1935delinsCG ENSP00000453513.2:p.Pro645=
ENST00000558518.6:c.2054_2055delinsCG MANE Select ENSP00000454071.1:p.Pro685=
ENST00000252444.9:c.2308_2309delinsCG
ENST00000455727.6:c.1550_1551delinsCG ENSP00000397829.2:p.Pro517=
ENST00000535915.5:c.1931_1932delinsCG ENSP00000440520.1:p.Pro644=
ENST00000545707.5:c.1606+203_1606+204delinsCG ENSP00000437639.1:n.1606+203_1606+204deli...
ENST00000557933.5:c.2054_2055delinsCG ENSP00000453557.1:p.Pro685=
ENST00000558013.5:c.2054_2055delinsCG ENSP00000453346.1:p.Pro685=
ENST00000558518.5:c.2054_2055delinsCG ENSP00000454071.1:p.Pro685=
NM_000527.4:c.2054_2055delinsCG , LRG_274t1:c.2054_2055delinsCG NP_000518.1:p.Pro685=
NM_001195798.1:c.2054_2055delinsCG NP_001182727.1:p.Pro685=
NM_001195799.1:c.1931_1932delinsCG NP_001182728.1:p.Pro644=
NM_001195800.1:c.1550_1551delinsCG NP_001182729.1:p.Pro517=
NM_001195803.1:c.1606+203_1606+204delinsCG NP_001182732.1:n.1606+203_1606+204delinsC...
XM_011528010.1:c.2054_2055delinsCG XP_011526312.1:p.Pro685=
XM_011528011.1:c.1673_1674delinsCG XP_011526313.1:p.Pro558=
XR_244074.2:n.2064_2065delinsCG
XM_011528010.2:c.2054_2055delinsCG XP_011526312.1:p.Pro685=
XR_001753685.2:n.2171_2172delinsCG
XR_001753686.2:n.2031_2032delinsCG
NM_000527.5:c.2054_2055delinsCG MANE Select NP_000518.1:p.Pro685=
NM_001195798.2:c.2054_2055delinsCG NP_001182727.1:p.Pro685=
NM_001195799.2:c.1931_1932delinsCG NP_001182728.1:p.Pro644=
NM_001195800.2:c.1550_1551delinsCG NP_001182729.1:p.Pro517=
NM_001195803.2:c.1606+203_1606+204delinsCG NP_001182732.1:n.1606+203_1606+204delinsC...