Canonical Allele Identifier: CA2695223181

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102658_11102675del , CM000681.2:g.11102658_11102675del	GRCh38
NC_000019.9:g.11213334_11213351del , CM000681.1:g.11213334_11213351del	GRCh37
NC_000019.8:g.11074334_11074351del	NCBI36
NG_009060.1:g.18278_18295del , LRG_274:g.18278_18295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-6_460del
ENST00000559340.2:c.191-6_202del
ENST00000560467.2:c.191-6_202del
ENST00000558518.6:c.191-6_202del
ENST00000252444.9:c.445-6_456del
ENST00000455727.6:c.191-6_202del
ENST00000535915.5:c.190+2313_190+2330del	ENSP00000440520.1:n.190+2313_190+2330del
ENST00000545707.5:c.191-6_202del
ENST00000557933.5:c.191-6_202del
ENST00000557958.1:n.277-6_288del
ENST00000558013.5:c.191-6_202del
ENST00000558518.5:c.191-6_202del
NM_000527.4:c.191-6_202del , LRG_274t1:c.191-6_202del
NM_001195798.1:c.191-6_202del
NM_001195799.1:c.190+2313_190+2330del	NP_001182728.1:n.190+2313_190+2330del
NM_001195800.1:c.191-6_202del
NM_001195803.1:c.191-6_202del
XM_011528010.1:c.191-6_202del
XM_011528011.1:c.191-6_202del
XR_244074.2:n.341-6_352del
XM_011528010.2:c.191-6_202del
XR_001753685.2:n.308-6_319del
XR_001753686.2:n.308-6_319del
NM_000527.5:c.191-6_202del
NM_001195798.2:c.191-6_202del
NM_001195799.2:c.190+2313_190+2330del	NP_001182728.1:n.190+2313_190+2330del
NM_001195800.2:c.191-6_202del
NM_001195803.2:c.191-6_202del