Canonical Allele Identifier: CA2582475118

Gene: LDLR

Linked Data

• gnomAD v4: 19-11116866-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116867_11116868del , CM000681.2:g.11116867_11116868del	GRCh38
NC_000019.9:g.11227543_11227544del , CM000681.1:g.11227543_11227544del	GRCh37
NC_000019.8:g.11088543_11088544del	NCBI36
NG_009060.1:g.32487_32488del , LRG_274:g.32487_32488del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1972_1973del	ENSP00000252444.6:p.Ser658TrpfsTer7
ENST00000559340.2:c.1705+655_1705+656del	ENSP00000453696.2:n.1705+655_1705+656del
ENST00000560467.2:c.1594_1595del	ENSP00000453513.2:p.Ser532TrpfsTer7
ENST00000558518.6:c.1714_1715del MANE Select	ENSP00000454071.1:p.Ser572TrpfsTer7
ENST00000252444.9:c.1968_1969del
ENST00000455727.6:c.1210_1211del	ENSP00000397829.2:p.Ser404TrpfsTer7
ENST00000535915.5:c.1591_1592del	ENSP00000440520.1:p.Ser531TrpfsTer7
ENST00000545707.5:c.1333_1334del	ENSP00000437639.1:p.Ser445TrpfsTer7
ENST00000557933.5:c.1714_1715del	ENSP00000453557.1:p.Ser572TrpfsTer7
ENST00000558013.5:c.1714_1715del	ENSP00000453346.1:p.Ser572TrpfsTer7
ENST00000558518.5:c.1714_1715del	ENSP00000454071.1:p.Ser572TrpfsTer7
ENST00000559340.1:c.426+655_426+656del
NM_000527.4:c.1714_1715del , LRG_274t1:c.1714_1715del	NP_000518.1:p.Ser572TrpfsTer7
NM_001195798.1:c.1714_1715del	NP_001182727.1:p.Ser572TrpfsTer7
NM_001195799.1:c.1591_1592del	NP_001182728.1:p.Ser531TrpfsTer7
NM_001195800.1:c.1210_1211del	NP_001182729.1:p.Ser404TrpfsTer7
NM_001195803.1:c.1333_1334del	NP_001182732.1:p.Ser445TrpfsTer7
XM_011528010.1:c.1714_1715del	XP_011526312.1:p.Ser572TrpfsTer7
XM_011528011.1:c.1333_1334del	XP_011526313.1:p.Ser445TrpfsTer7
XR_244074.2:n.1855+655_1855+656del
XM_011528010.2:c.1714_1715del	XP_011526312.1:p.Ser572TrpfsTer7
XR_001753685.2:n.1831_1832del
XR_001753686.2:n.1822+655_1822+656del
NM_000527.5:c.1714_1715del MANE Select	NP_000518.1:p.Ser572TrpfsTer7
NM_001195798.2:c.1714_1715del	NP_001182727.1:p.Ser572TrpfsTer7
NM_001195799.2:c.1591_1592del	NP_001182728.1:p.Ser531TrpfsTer7
NM_001195800.2:c.1210_1211del	NP_001182729.1:p.Ser404TrpfsTer7
NM_001195803.2:c.1333_1334del	NP_001182732.1:p.Ser445TrpfsTer7