Canonical Allele Identifier: CA2322775281

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119992_11120000delinsAACAAACAG , CM000681.2:g.11119992_11120000delinsAACAAACAG	GRCh38
NC_000019.9:g.11230668_11230676delinsAACAAACAG , CM000681.1:g.11230668_11230676delinsAACAAACAG	GRCh37
NC_000019.8:g.11091668_11091676delinsAACAAACAG	NCBI36
NG_009060.1:g.35612_35620delinsAACAAACAG , LRG_274:g.35612_35620delinsAACAAACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-100_2104-92delinsAACAAACAG	ENSP00000252444.6:n.2104-100_2104-92delin...
ENST00000559340.2:c.1706-100_1706-92delinsAACAAACAG	ENSP00000453696.2:n.1706-100_1706-92delin...
ENST00000560467.2:c.1726-100_1726-92delinsAACAAACAG	ENSP00000453513.2:n.1726-100_1726-92delin...
ENST00000558518.6:c.1846-100_1846-92delinsAACAAACAG MANE Select	ENSP00000454071.1:n.1846-100_1846-92delin...
ENST00000252444.9:c.2100-100_2100-92delinsAACAAACAG
ENST00000455727.6:c.1342-100_1342-92delinsAACAAACAG	ENSP00000397829.2:n.1342-100_1342-92delin...
ENST00000535915.5:c.1723-100_1723-92delinsAACAAACAG	ENSP00000440520.1:n.1723-100_1723-92delin...
ENST00000545707.5:c.1465-100_1465-92delinsAACAAACAG	ENSP00000437639.1:n.1465-100_1465-92delin...
ENST00000557933.5:c.1846-100_1846-92delinsAACAAACAG	ENSP00000453557.1:n.1846-100_1846-92delin...
ENST00000558013.5:c.1846-100_1846-92delinsAACAAACAG	ENSP00000453346.1:n.1846-100_1846-92delin...
ENST00000558518.5:c.1846-100_1846-92delinsAACAAACAG	ENSP00000454071.1:n.1846-100_1846-92delin...
ENST00000559340.1:c.427-100_427-92delinsAACAAACAG
NM_000527.4:c.1846-100_1846-92delinsAACAAACAG , LRG_274t1:c.1846-100_1846-92delinsAACAAACAG	NP_000518.1:n.1846-100_1846-92delinsAACAA...
NM_001195798.1:c.1846-100_1846-92delinsAACAAACAG	NP_001182727.1:n.1846-100_1846-92delinsAA...
NM_001195799.1:c.1723-100_1723-92delinsAACAAACAG	NP_001182728.1:n.1723-100_1723-92delinsAA...
NM_001195800.1:c.1342-100_1342-92delinsAACAAACAG	NP_001182729.1:n.1342-100_1342-92delinsAA...
NM_001195803.1:c.1465-100_1465-92delinsAACAAACAG	NP_001182732.1:n.1465-100_1465-92delinsAA...
XM_011528010.1:c.1846-100_1846-92delinsAACAAACAG	XP_011526312.1:n.1846-100_1846-92delinsAA...
XM_011528011.1:c.1465-100_1465-92delinsAACAAACAG	XP_011526313.1:n.1465-100_1465-92delinsAA...
XR_244074.2:n.1856-100_1856-92delinsAACAAACAG
XM_011528010.2:c.1846-100_1846-92delinsAACAAACAG	XP_011526312.1:n.1846-100_1846-92delinsAA...
XR_001753685.2:n.1963-100_1963-92delinsAACAAACAG
XR_001753686.2:n.1823-100_1823-92delinsAACAAACAG
NM_000527.5:c.1846-100_1846-92delinsAACAAACAG MANE Select	NP_000518.1:n.1846-100_1846-92delinsAACAA...
NM_001195798.2:c.1846-100_1846-92delinsAACAAACAG	NP_001182727.1:n.1846-100_1846-92delinsAA...
NM_001195799.2:c.1723-100_1723-92delinsAACAAACAG	NP_001182728.1:n.1723-100_1723-92delinsAA...
NM_001195800.2:c.1342-100_1342-92delinsAACAAACAG	NP_001182729.1:n.1342-100_1342-92delinsAA...
NM_001195803.2:c.1465-100_1465-92delinsAACAAACAG	NP_001182732.1:n.1465-100_1465-92delinsAA...