Canonical Allele Identifier: CA2695228163

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113302_11113305delinsTCAC , CM000681.2:g.11113302_11113305delinsTCAC	GRCh38
NC_000019.9:g.11223978_11223981delinsTCAC , CM000681.1:g.11223978_11223981delinsTCAC	GRCh37
NC_000019.8:g.11084978_11084981delinsTCAC	NCBI36
NG_009060.1:g.28922_28925delinsTCAC , LRG_274:g.28922_28925delinsTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1469_1472delinsTCAC	ENSP00000252444.6:p.Thr490_Asn491delinsIleThr
ENST00000559340.2:c.1211_1214delinsTCAC	ENSP00000453696.2:p.Thr404_Asn405delinsIleThr
ENST00000560467.2:c.1091_1094delinsTCAC	ENSP00000453513.2:p.Thr364_Asn365delinsIleThr
ENST00000558518.6:c.1211_1214delinsTCAC MANE Select	ENSP00000454071.1:p.Thr404_Asn405delinsIleThr
ENST00000252444.9:c.1465_1468delinsTCAC
ENST00000455727.6:c.707_710delinsTCAC	ENSP00000397829.2:p.Thr236_Asn237delinsIleThr
ENST00000535915.5:c.1088_1091delinsTCAC	ENSP00000440520.1:p.Thr363_Asn364delinsIleThr
ENST00000545707.5:c.830_833delinsTCAC	ENSP00000437639.1:p.Thr277_Asn278delinsIleThr
ENST00000557933.5:c.1211_1214delinsTCAC	ENSP00000453557.1:p.Thr404_Asn405delinsIleThr
ENST00000558013.5:c.1211_1214delinsTCAC	ENSP00000453346.1:p.Thr404_Asn405delinsIleThr
ENST00000558518.5:c.1211_1214delinsTCAC	ENSP00000454071.1:p.Thr404_Asn405delinsIleThr
ENST00000560173.1:n.210_213delinsTCAC
ENST00000560467.1:c.691_694delinsTCAC
NM_000527.4:c.1211_1214delinsTCAC , LRG_274t1:c.1211_1214delinsTCAC	NP_000518.1:p.Thr404_Asn405delinsIleThr
NM_001195798.1:c.1211_1214delinsTCAC	NP_001182727.1:p.Thr404_Asn405delinsIleThr
NM_001195799.1:c.1088_1091delinsTCAC	NP_001182728.1:p.Thr363_Asn364delinsIleThr
NM_001195800.1:c.707_710delinsTCAC	NP_001182729.1:p.Thr236_Asn237delinsIleThr
NM_001195803.1:c.830_833delinsTCAC	NP_001182732.1:p.Thr277_Asn278delinsIleThr
XM_011528010.1:c.1211_1214delinsTCAC	XP_011526312.1:p.Thr404_Asn405delinsIleThr
XM_011528011.1:c.830_833delinsTCAC	XP_011526313.1:p.Thr277_Asn278delinsIleThr
XR_244074.2:n.1361_1364delinsTCAC
XM_011528010.2:c.1211_1214delinsTCAC	XP_011526312.1:p.Thr404_Asn405delinsIleThr
XR_001753685.2:n.1328_1331delinsTCAC
XR_001753686.2:n.1328_1331delinsTCAC
NM_000527.5:c.1211_1214delinsTCAC MANE Select	NP_000518.1:p.Thr404_Asn405delinsIleThr
NM_001195798.2:c.1211_1214delinsTCAC	NP_001182727.1:p.Thr404_Asn405delinsIleThr
NM_001195799.2:c.1088_1091delinsTCAC	NP_001182728.1:p.Thr363_Asn364delinsIleThr
NM_001195800.2:c.707_710delinsTCAC	NP_001182729.1:p.Thr236_Asn237delinsIleThr
NM_001195803.2:c.830_833delinsTCAC	NP_001182732.1:p.Thr277_Asn278delinsIleThr