Canonical Allele Identifier: CA2322775192

Gene: LDLR

Linked Data

• dbSNP Id: rs2077517639

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119831_11119834del , CM000681.2:g.11119831_11119834del	GRCh38
NC_000019.9:g.11230507_11230510del , CM000681.1:g.11230507_11230510del	GRCh37
NC_000019.8:g.11091507_11091510del	NCBI36
NG_009060.1:g.35451_35454del , LRG_274:g.35451_35454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-261_2104-258del	ENSP00000252444.6:n.2104-261_2104-258del
ENST00000559340.2:c.1706-261_1706-258del	ENSP00000453696.2:n.1706-261_1706-258del
ENST00000560467.2:c.1726-261_1726-258del	ENSP00000453513.2:n.1726-261_1726-258del
ENST00000558518.6:c.1846-261_1846-258del MANE Select	ENSP00000454071.1:n.1846-261_1846-258del
ENST00000252444.9:c.2100-261_2100-258del
ENST00000455727.6:c.1342-261_1342-258del	ENSP00000397829.2:n.1342-261_1342-258del
ENST00000535915.5:c.1723-261_1723-258del	ENSP00000440520.1:n.1723-261_1723-258del
ENST00000545707.5:c.1465-261_1465-258del	ENSP00000437639.1:n.1465-261_1465-258del
ENST00000557933.5:c.1846-261_1846-258del	ENSP00000453557.1:n.1846-261_1846-258del
ENST00000558013.5:c.1846-261_1846-258del	ENSP00000453346.1:n.1846-261_1846-258del
ENST00000558518.5:c.1846-261_1846-258del	ENSP00000454071.1:n.1846-261_1846-258del
ENST00000559340.1:c.427-261_427-258del
NM_000527.4:c.1846-261_1846-258del , LRG_274t1:c.1846-261_1846-258del	NP_000518.1:n.1846-261_1846-258del
NM_001195798.1:c.1846-261_1846-258del	NP_001182727.1:n.1846-261_1846-258del
NM_001195799.1:c.1723-261_1723-258del	NP_001182728.1:n.1723-261_1723-258del
NM_001195800.1:c.1342-261_1342-258del	NP_001182729.1:n.1342-261_1342-258del
NM_001195803.1:c.1465-261_1465-258del	NP_001182732.1:n.1465-261_1465-258del
XM_011528010.1:c.1846-261_1846-258del	XP_011526312.1:n.1846-261_1846-258del
XM_011528011.1:c.1465-261_1465-258del	XP_011526313.1:n.1465-261_1465-258del
XR_244074.2:n.1856-261_1856-258del
XM_011528010.2:c.1846-261_1846-258del	XP_011526312.1:n.1846-261_1846-258del
XR_001753685.2:n.1963-261_1963-258del
XR_001753686.2:n.1823-261_1823-258del
NM_000527.5:c.1846-261_1846-258del MANE Select	NP_000518.1:n.1846-261_1846-258del
NM_001195798.2:c.1846-261_1846-258del	NP_001182727.1:n.1846-261_1846-258del
NM_001195799.2:c.1723-261_1723-258del	NP_001182728.1:n.1723-261_1723-258del
NM_001195800.2:c.1342-261_1342-258del	NP_001182729.1:n.1342-261_1342-258del
NM_001195803.2:c.1465-261_1465-258del	NP_001182732.1:n.1465-261_1465-258del