Canonical Allele Identifier: CA2322771768

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113386_11113389delinsTGGA , CM000681.2:g.11113386_11113389delinsTGGA	GRCh38
NC_000019.9:g.11224062_11224065delinsTGGA , CM000681.1:g.11224062_11224065delinsTGGA	GRCh37
NC_000019.8:g.11085062_11085065delinsTGGA	NCBI36
NG_009060.1:g.29006_29009delinsTGGA , LRG_274:g.29006_29009delinsTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1553_1556delinsTGGA	ENSP00000252444.6:p.Leu518=
ENST00000559340.2:c.1295_1298delinsTGGA	ENSP00000453696.2:p.Leu432=
ENST00000560467.2:c.1175_1178delinsTGGA	ENSP00000453513.2:p.Leu392=
ENST00000558518.6:c.1295_1298delinsTGGA MANE Select	ENSP00000454071.1:p.Leu432=
ENST00000252444.9:c.1549_1552delinsTGGA
ENST00000455727.6:c.791_794delinsTGGA	ENSP00000397829.2:p.Leu264=
ENST00000535915.5:c.1172_1175delinsTGGA	ENSP00000440520.1:p.Leu391=
ENST00000545707.5:c.914_917delinsTGGA	ENSP00000437639.1:p.Leu305=
ENST00000557933.5:c.1295_1298delinsTGGA	ENSP00000453557.1:p.Leu432=
ENST00000558013.5:c.1295_1298delinsTGGA	ENSP00000453346.1:p.Leu432=
ENST00000558518.5:c.1295_1298delinsTGGA	ENSP00000454071.1:p.Leu432=
ENST00000559340.1:c.16_19delinsTGGA
ENST00000560173.1:n.294_297delinsTGGA
ENST00000560467.1:c.775_778delinsTGGA
NM_000527.4:c.1295_1298delinsTGGA , LRG_274t1:c.1295_1298delinsTGGA	NP_000518.1:p.Leu432=
NM_001195798.1:c.1295_1298delinsTGGA	NP_001182727.1:p.Leu432=
NM_001195799.1:c.1172_1175delinsTGGA	NP_001182728.1:p.Leu391=
NM_001195800.1:c.791_794delinsTGGA	NP_001182729.1:p.Leu264=
NM_001195803.1:c.914_917delinsTGGA	NP_001182732.1:p.Leu305=
XM_011528010.1:c.1295_1298delinsTGGA	XP_011526312.1:p.Leu432=
XM_011528011.1:c.914_917delinsTGGA	XP_011526313.1:p.Leu305=
XR_244074.2:n.1445_1448delinsTGGA
XM_011528010.2:c.1295_1298delinsTGGA	XP_011526312.1:p.Leu432=
XR_001753685.2:n.1412_1415delinsTGGA
XR_001753686.2:n.1412_1415delinsTGGA
NM_000527.5:c.1295_1298delinsTGGA MANE Select	NP_000518.1:p.Leu432=
NM_001195798.2:c.1295_1298delinsTGGA	NP_001182727.1:p.Leu432=
NM_001195799.2:c.1172_1175delinsTGGA	NP_001182728.1:p.Leu391=
NM_001195800.2:c.791_794delinsTGGA	NP_001182729.1:p.Leu264=
NM_001195803.2:c.914_917delinsTGGA	NP_001182732.1:p.Leu305=