Canonical Allele Identifier: CA2322773287

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116165_11116168delinsACTC , CM000681.2:g.11116165_11116168delinsACTC	GRCh38
NC_000019.9:g.11226841_11226844delinsACTC , CM000681.1:g.11226841_11226844delinsACTC	GRCh37
NC_000019.8:g.11087841_11087844delinsACTC	NCBI36
NG_009060.1:g.31785_31788delinsACTC , LRG_274:g.31785_31788delinsACTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1916_1919delinsACTC	ENSP00000252444.6:p.Tyr639=
ENST00000559340.2:c.1658_1661delinsACTC	ENSP00000453696.2:p.Tyr553=
ENST00000560467.2:c.1538_1541delinsACTC	ENSP00000453513.2:p.Tyr513=
ENST00000558518.6:c.1658_1661delinsACTC MANE Select	ENSP00000454071.1:p.Tyr553=
ENST00000252444.9:c.1912_1915delinsACTC
ENST00000455727.6:c.1154_1157delinsACTC	ENSP00000397829.2:p.Tyr385=
ENST00000535915.5:c.1535_1538delinsACTC	ENSP00000440520.1:p.Tyr512=
ENST00000545707.5:c.1277_1280delinsACTC	ENSP00000437639.1:p.Tyr426=
ENST00000557933.5:c.1658_1661delinsACTC	ENSP00000453557.1:p.Tyr553=
ENST00000558013.5:c.1658_1661delinsACTC	ENSP00000453346.1:p.Tyr553=
ENST00000558518.5:c.1658_1661delinsACTC	ENSP00000454071.1:p.Tyr553=
ENST00000559340.1:c.379_382delinsACTC
NM_000527.4:c.1658_1661delinsACTC , LRG_274t1:c.1658_1661delinsACTC	NP_000518.1:p.Tyr553=
NM_001195798.1:c.1658_1661delinsACTC	NP_001182727.1:p.Tyr553=
NM_001195799.1:c.1535_1538delinsACTC	NP_001182728.1:p.Tyr512=
NM_001195800.1:c.1154_1157delinsACTC	NP_001182729.1:p.Tyr385=
NM_001195803.1:c.1277_1280delinsACTC	NP_001182732.1:p.Tyr426=
XM_011528010.1:c.1658_1661delinsACTC	XP_011526312.1:p.Tyr553=
XM_011528011.1:c.1277_1280delinsACTC	XP_011526313.1:p.Tyr426=
XR_244074.2:n.1808_1811delinsACTC
XM_011528010.2:c.1658_1661delinsACTC	XP_011526312.1:p.Tyr553=
XR_001753685.2:n.1775_1778delinsACTC
XR_001753686.2:n.1775_1778delinsACTC
NM_000527.5:c.1658_1661delinsACTC MANE Select	NP_000518.1:p.Tyr553=
NM_001195798.2:c.1658_1661delinsACTC	NP_001182727.1:p.Tyr553=
NM_001195799.2:c.1535_1538delinsACTC	NP_001182728.1:p.Tyr512=
NM_001195800.2:c.1154_1157delinsACTC	NP_001182729.1:p.Tyr385=
NM_001195803.2:c.1277_1280delinsACTC	NP_001182732.1:p.Tyr426=