Canonical Allele Identifier: CA3054201316
Community Standard Title: NM_000527.5(LDLR):c.1002_1003delinsAT (p.Gly335Cys)
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110713_11110714delinsAT , CM000681.2:g.11110713_11110714delinsAT GRCh38
NC_000019.9:g.11221389_11221390delinsAT , CM000681.1:g.11221389_11221390delinsAT GRCh37
NC_000019.8:g.11082389_11082390delinsAT NCBI36
NG_009060.1:g.26333_26334delinsAT , LRG_274:g.26333_26334delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_000527.5:c.1002_1003delinsAT MANE Select NP_000518.1:p.Gly335Cys
ENST00000558518.6:c.1002_1003delinsAT MANE Select ENSP00000454071.1:p.Gly335Cys
NM_000527.4:c.1002_1003delinsAT , LRG_274t1:c.1002_1003delinsAT NP_000518.1:p.Gly335Cys
NM_001195798.1:c.1002_1003delinsAT NP_001182727.1:p.Gly335Cys
NM_001195798.2:c.1002_1003delinsAT NP_001182727.1:p.Gly335Cys
NM_001195799.1:c.879_880delinsAT NP_001182728.1:p.Gly294Cys
NM_001195799.2:c.879_880delinsAT NP_001182728.1:p.Gly294Cys
NM_001195800.1:c.498_499delinsAT NP_001182729.1:p.Gly167Cys
NM_001195800.2:c.498_499delinsAT NP_001182729.1:p.Gly167Cys
NM_001195803.1:c.621_622delinsAT NP_001182732.1:p.Gly208Cys
NM_001195803.2:c.621_622delinsAT NP_001182732.1:p.Gly208Cys
ENST00000252444.10:c.1260_1261delinsAT ENSP00000252444.6:p.Gly421Cys
ENST00000252444.9:c.1256_1257delinsAT
ENST00000455727.6:c.498_499delinsAT ENSP00000397829.2:p.Gly167Cys
ENST00000535915.5:c.879_880delinsAT ENSP00000440520.1:p.Gly294Cys
ENST00000545707.5:c.621_622delinsAT ENSP00000437639.1:p.Gly208Cys
ENST00000557933.5:c.1002_1003delinsAT ENSP00000453557.1:p.Gly335Cys
ENST00000558013.5:c.1002_1003delinsAT ENSP00000453346.1:p.Gly335Cys
ENST00000558518.5:c.1002_1003delinsAT ENSP00000454071.1:p.Gly335Cys
ENST00000559340.2:c.1002_1003delinsAT ENSP00000453696.2:p.Gly335Cys
ENST00000560173.1:n.1_2delinsAT
ENST00000560467.1:c.541-801_541-800delinsAT
ENST00000560467.2:c.941-801_941-800delinsAT ENSP00000453513.2:n.941-801_941-800delinsAT
XM_011528010.1:c.1002_1003delinsAT XP_011526312.1:p.Gly335Cys
XM_011528010.2:c.1002_1003delinsAT XP_011526312.1:p.Gly335Cys
XM_011528011.1:c.621_622delinsAT XP_011526313.1:p.Gly208Cys
XR_001753685.2:n.1119_1120delinsAT
XR_001753686.2:n.1119_1120delinsAT
XR_244074.2:n.1152_1153delinsAT