Canonical Allele Identifier: CA2322766052

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102768_11102770delinsTCA , CM000681.2:g.11102768_11102770delinsTCA	GRCh38
NC_000019.9:g.11213444_11213446delinsTCA , CM000681.1:g.11213444_11213446delinsTCA	GRCh37
NC_000019.8:g.11074444_11074446delinsTCA	NCBI36
NG_009060.1:g.18388_18390delinsTCA , LRG_274:g.18388_18390delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.553_555delinsTCA	ENSP00000252444.6:p.Ser185=
ENST00000559340.2:c.295_297delinsTCA	ENSP00000453696.2:p.Ser99=
ENST00000560467.2:c.295_297delinsTCA	ENSP00000453513.2:p.Ser99=
ENST00000558518.6:c.295_297delinsTCA MANE Select	ENSP00000454071.1:p.Ser99=
ENST00000252444.9:c.549_551delinsTCA
ENST00000455727.6:c.295_297delinsTCA	ENSP00000397829.2:p.Ser99=
ENST00000535915.5:c.190+2423_190+2425delinsTCA	ENSP00000440520.1:n.190+2423_190+2425delinsTCA
ENST00000545707.5:c.295_297delinsTCA	ENSP00000437639.1:p.Ser99=
ENST00000557933.5:c.295_297delinsTCA	ENSP00000453557.1:p.Ser99=
ENST00000557958.1:n.381_383delinsTCA
ENST00000558013.5:c.295_297delinsTCA	ENSP00000453346.1:p.Ser99=
ENST00000558518.5:c.295_297delinsTCA	ENSP00000454071.1:p.Ser99=
NM_000527.4:c.295_297delinsTCA , LRG_274t1:c.295_297delinsTCA	NP_000518.1:p.Ser99=
NM_001195798.1:c.295_297delinsTCA	NP_001182727.1:p.Ser99=
NM_001195799.1:c.190+2423_190+2425delinsTCA	NP_001182728.1:n.190+2423_190+2425delinsTCA
NM_001195800.1:c.295_297delinsTCA	NP_001182729.1:p.Ser99=
NM_001195803.1:c.295_297delinsTCA	NP_001182732.1:p.Ser99=
XM_011528010.1:c.295_297delinsTCA	XP_011526312.1:p.Ser99=
XM_011528011.1:c.295_297delinsTCA	XP_011526313.1:p.Ser99=
XR_244074.2:n.445_447delinsTCA
XM_011528010.2:c.295_297delinsTCA	XP_011526312.1:p.Ser99=
XR_001753685.2:n.412_414delinsTCA
XR_001753686.2:n.412_414delinsTCA
NM_000527.5:c.295_297delinsTCA MANE Select	NP_000518.1:p.Ser99=
NM_001195798.2:c.295_297delinsTCA	NP_001182727.1:p.Ser99=
NM_001195799.2:c.190+2423_190+2425delinsTCA	NP_001182728.1:n.190+2423_190+2425delinsTCA
NM_001195800.2:c.295_297delinsTCA	NP_001182729.1:p.Ser99=
NM_001195803.2:c.295_297delinsTCA	NP_001182732.1:p.Ser99=