Canonical Allele Identifier: CA2695238673
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113577_11113580delinsGGCGTCTCTTCCT , CM000681.2:g.11113577_11113580delinsGGCGTCTCTTCCT GRCh38
NC_000019.9:g.11224253_11224256delinsGGCGTCTCTTCCT , CM000681.1:g.11224253_11224256delinsGGCGTCTCTTCCT GRCh37
NC_000019.8:g.11085253_11085256delinsGGCGTCTCTTCCT NCBI36
NG_009060.1:g.29197_29200delinsGGCGTCTCTTCCT , LRG_274:g.29197_29200delinsGGCGTCTCTTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1659_1662delinsGGCGTCTCTTCCT ENSP00000252444.6:p.Val554delinsAlaSerLeuPro
ENST00000559340.2:c.1401_1404delinsGGCGTCTCTTCCT ENSP00000453696.2:p.Val468delinsAlaSerLeuPro
ENST00000560467.2:c.1281_1284delinsGGCGTCTCTTCCT ENSP00000453513.2:p.Val428delinsAlaSerLeuPro
ENST00000558518.6:c.1401_1404delinsGGCGTCTCTTCCT MANE Select ENSP00000454071.1:p.Val468delinsAlaSerLeuPro
ENST00000252444.9:c.1655_1658delinsGGCGTCTCTTCCT
ENST00000455727.6:c.897_900delinsGGCGTCTCTTCCT ENSP00000397829.2:p.Val300delinsAlaSerLeuPro
ENST00000535915.5:c.1278_1281delinsGGCGTCTCTTCCT ENSP00000440520.1:p.Val427delinsAlaSerLeuPro
ENST00000545707.5:c.1020_1023delinsGGCGTCTCTTCCT ENSP00000437639.1:p.Val341delinsAlaSerLeuPro
ENST00000557933.5:c.1401_1404delinsGGCGTCTCTTCCT ENSP00000453557.1:p.Val468delinsAlaSerLeuPro
ENST00000558013.5:c.1401_1404delinsGGCGTCTCTTCCT ENSP00000453346.1:p.Val468delinsAlaSerLeuPro
ENST00000558518.5:c.1401_1404delinsGGCGTCTCTTCCT ENSP00000454071.1:p.Val468delinsAlaSerLeuPro
ENST00000559340.1:c.122_125delinsGGCGTCTCTTCCT
ENST00000560467.1:c.881_884delinsGGCGTCTCTTCCT
NM_000527.4:c.1401_1404delinsGGCGTCTCTTCCT , LRG_274t1:c.1401_1404delinsGGCGTCTCTTCCT NP_000518.1:p.Val468delinsAlaSerLeuPro
NM_001195798.1:c.1401_1404delinsGGCGTCTCTTCCT NP_001182727.1:p.Val468delinsAlaSerLeuPro
NM_001195799.1:c.1278_1281delinsGGCGTCTCTTCCT NP_001182728.1:p.Val427delinsAlaSerLeuPro
NM_001195800.1:c.897_900delinsGGCGTCTCTTCCT NP_001182729.1:p.Val300delinsAlaSerLeuPro
NM_001195803.1:c.1020_1023delinsGGCGTCTCTTCCT NP_001182732.1:p.Val341delinsAlaSerLeuPro
XM_011528010.1:c.1401_1404delinsGGCGTCTCTTCCT XP_011526312.1:p.Val468delinsAlaSerLeuPro
XM_011528011.1:c.1020_1023delinsGGCGTCTCTTCCT XP_011526313.1:p.Val341delinsAlaSerLeuPro
XR_244074.2:n.1551_1554delinsGGCGTCTCTTCCT
XM_011528010.2:c.1401_1404delinsGGCGTCTCTTCCT XP_011526312.1:p.Val468delinsAlaSerLeuPro
XR_001753685.2:n.1518_1521delinsGGCGTCTCTTCCT
XR_001753686.2:n.1518_1521delinsGGCGTCTCTTCCT
NM_000527.5:c.1401_1404delinsGGCGTCTCTTCCT MANE Select NP_000518.1:p.Val468delinsAlaSerLeuPro
NM_001195798.2:c.1401_1404delinsGGCGTCTCTTCCT NP_001182727.1:p.Val468delinsAlaSerLeuPro
NM_001195799.2:c.1278_1281delinsGGCGTCTCTTCCT NP_001182728.1:p.Val427delinsAlaSerLeuPro
NM_001195800.2:c.897_900delinsGGCGTCTCTTCCT NP_001182729.1:p.Val300delinsAlaSerLeuPro
NM_001195803.2:c.1020_1023delinsGGCGTCTCTTCCT NP_001182732.1:p.Val341delinsAlaSerLeuPro