Canonical Allele Identifier: CA2322768138

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106557_11106567delinsTTTTCCAGCTG , CM000681.2:g.11106557_11106567delinsTTTTCCAGCTG	GRCh38
NC_000019.9:g.11217233_11217243delinsTTTTCCAGCTG , CM000681.1:g.11217233_11217243delinsTTTTCCAGCTG	GRCh37
NC_000019.8:g.11078233_11078243delinsTTTTCCAGCTG	NCBI36
NG_009060.1:g.22177_22187delinsTTTTCCAGCTG , LRG_274:g.22177_22187delinsTTTTCCAGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.953-8_955delinsTTTTCCAGCTG
ENST00000559340.2:c.695-8_697delinsTTTTCCAGCTG
ENST00000560467.2:c.695-8_697delinsTTTTCCAGCTG
ENST00000558518.6:c.695-8_697delinsTTTTCCAGCTG
ENST00000252444.9:c.949-8_951delinsTTTTCCAGCTG
ENST00000455727.6:c.314-835_314-825delinsTTTTCCAGCTG	ENSP00000397829.2:n.314-835_314-825delinsTTTTCCAGCTG
ENST00000535915.5:c.572-8_574delinsTTTTCCAGCTG
ENST00000545707.5:c.314-8_316delinsTTTTCCAGCTG
ENST00000557933.5:c.695-8_697delinsTTTTCCAGCTG
ENST00000558013.5:c.695-8_697delinsTTTTCCAGCTG
ENST00000558518.5:c.695-8_697delinsTTTTCCAGCTG
ENST00000558528.1:n.202_212delinsTTTTCCAGCTG
ENST00000560467.1:c.295-8_297delinsTTTTCCAGCTG
NM_000527.4:c.695-8_697delinsTTTTCCAGCTG , LRG_274t1:c.695-8_697delinsTTTTCCAGCTG
NM_001195798.1:c.695-8_697delinsTTTTCCAGCTG
NM_001195799.1:c.572-8_574delinsTTTTCCAGCTG
NM_001195800.1:c.314-835_314-825delinsTTTTCCAGCTG	NP_001182729.1:n.314-835_314-825delinsTTTTCCAGCTG
NM_001195803.1:c.314-8_316delinsTTTTCCAGCTG
XM_011528010.1:c.695-8_697delinsTTTTCCAGCTG
XM_011528011.1:c.314-8_316delinsTTTTCCAGCTG
XR_244074.2:n.845-8_847delinsTTTTCCAGCTG
XM_011528010.2:c.695-8_697delinsTTTTCCAGCTG
XR_001753685.2:n.812-8_814delinsTTTTCCAGCTG
XR_001753686.2:n.812-8_814delinsTTTTCCAGCTG
NM_000527.5:c.695-8_697delinsTTTTCCAGCTG
NM_001195798.2:c.695-8_697delinsTTTTCCAGCTG
NM_001195799.2:c.572-8_574delinsTTTTCCAGCTG
NM_001195800.2:c.314-835_314-825delinsTTTTCCAGCTG	NP_001182729.1:n.314-835_314-825delinsTTTTCCAGCTG
NM_001195803.2:c.314-8_316delinsTTTTCCAGCTG