Canonical Allele Identifier: CA2322773654

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116879_11116888delinsTACTGGGTTG , CM000681.2:g.11116879_11116888delinsTACTGGGTTG	GRCh38
NC_000019.9:g.11227555_11227564delinsTACTGGGTTG , CM000681.1:g.11227555_11227564delinsTACTGGGTTG	GRCh37
NC_000019.8:g.11088555_11088564delinsTACTGGGTTG	NCBI36
NG_009060.1:g.32499_32508delinsTACTGGGTTG , LRG_274:g.32499_32508delinsTACTGGGTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1984_1993delinsTACTGGGTTG	ENSP00000252444.6:p.Tyr662=
ENST00000559340.2:c.1705+667_1705+676delinsTACTGGGTTG	ENSP00000453696.2:n.1705+667_1705+676deli...
ENST00000560467.2:c.1606_1615delinsTACTGGGTTG	ENSP00000453513.2:p.Tyr536=
ENST00000558518.6:c.1726_1735delinsTACTGGGTTG MANE Select	ENSP00000454071.1:p.Tyr576=
ENST00000252444.9:c.1980_1989delinsTACTGGGTTG
ENST00000455727.6:c.1222_1231delinsTACTGGGTTG	ENSP00000397829.2:p.Tyr408=
ENST00000535915.5:c.1603_1612delinsTACTGGGTTG	ENSP00000440520.1:p.Tyr535=
ENST00000545707.5:c.1345_1354delinsTACTGGGTTG	ENSP00000437639.1:p.Tyr449=
ENST00000557933.5:c.1726_1735delinsTACTGGGTTG	ENSP00000453557.1:p.Tyr576=
ENST00000558013.5:c.1726_1735delinsTACTGGGTTG	ENSP00000453346.1:p.Tyr576=
ENST00000558518.5:c.1726_1735delinsTACTGGGTTG	ENSP00000454071.1:p.Tyr576=
ENST00000559340.1:c.426+667_426+676delinsTACTGGGTTG
NM_000527.4:c.1726_1735delinsTACTGGGTTG , LRG_274t1:c.1726_1735delinsTACTGGGTTG	NP_000518.1:p.Tyr576=
NM_001195798.1:c.1726_1735delinsTACTGGGTTG	NP_001182727.1:p.Tyr576=
NM_001195799.1:c.1603_1612delinsTACTGGGTTG	NP_001182728.1:p.Tyr535=
NM_001195800.1:c.1222_1231delinsTACTGGGTTG	NP_001182729.1:p.Tyr408=
NM_001195803.1:c.1345_1354delinsTACTGGGTTG	NP_001182732.1:p.Tyr449=
XM_011528010.1:c.1726_1735delinsTACTGGGTTG	XP_011526312.1:p.Tyr576=
XM_011528011.1:c.1345_1354delinsTACTGGGTTG	XP_011526313.1:p.Tyr449=
XR_244074.2:n.1855+667_1855+676delinsTACTGGGTTG
XM_011528010.2:c.1726_1735delinsTACTGGGTTG	XP_011526312.1:p.Tyr576=
XR_001753685.2:n.1843_1852delinsTACTGGGTTG
XR_001753686.2:n.1822+667_1822+676delinsTACTGGGTTG
NM_000527.5:c.1726_1735delinsTACTGGGTTG MANE Select	NP_000518.1:p.Tyr576=
NM_001195798.2:c.1726_1735delinsTACTGGGTTG	NP_001182727.1:p.Tyr576=
NM_001195799.2:c.1603_1612delinsTACTGGGTTG	NP_001182728.1:p.Tyr535=
NM_001195800.2:c.1222_1231delinsTACTGGGTTG	NP_001182729.1:p.Tyr408=
NM_001195803.2:c.1345_1354delinsTACTGGGTTG	NP_001182732.1:p.Tyr449=