Canonical Allele Identifier: CA2582472206

Gene: LDLR

Linked Data

• gnomAD v4: 19-11102570-CTCCCAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102572_11102579del , CM000681.2:g.11102572_11102579del	GRCh38
NC_000019.9:g.11213248_11213255del , CM000681.1:g.11213248_11213255del	GRCh37
NC_000019.8:g.11074248_11074255del	NCBI36
NG_009060.1:g.18192_18199del , LRG_274:g.18192_18199del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.449-92_449-85del	ENSP00000252444.6:n.449-92_449-85del
ENST00000559340.2:c.191-92_191-85del	ENSP00000453696.2:n.191-92_191-85del
ENST00000560467.2:c.191-92_191-85del	ENSP00000453513.2:n.191-92_191-85del
ENST00000558518.6:c.191-92_191-85del MANE Select	ENSP00000454071.1:n.191-92_191-85del
ENST00000252444.9:c.445-92_445-85del
ENST00000455727.6:c.191-92_191-85del	ENSP00000397829.2:n.191-92_191-85del
ENST00000535915.5:c.190+2227_190+2234del	ENSP00000440520.1:n.190+2227_190+2234del
ENST00000545707.5:c.191-92_191-85del	ENSP00000437639.1:n.191-92_191-85del
ENST00000557933.5:c.191-92_191-85del	ENSP00000453557.1:n.191-92_191-85del
ENST00000557958.1:n.277-92_277-85del
ENST00000558013.5:c.191-92_191-85del	ENSP00000453346.1:n.191-92_191-85del
ENST00000558518.5:c.191-92_191-85del	ENSP00000454071.1:n.191-92_191-85del
NM_000527.4:c.191-92_191-85del , LRG_274t1:c.191-92_191-85del	NP_000518.1:n.191-92_191-85del
NM_001195798.1:c.191-92_191-85del	NP_001182727.1:n.191-92_191-85del
NM_001195799.1:c.190+2227_190+2234del	NP_001182728.1:n.190+2227_190+2234del
NM_001195800.1:c.191-92_191-85del	NP_001182729.1:n.191-92_191-85del
NM_001195803.1:c.191-92_191-85del	NP_001182732.1:n.191-92_191-85del
XM_011528010.1:c.191-92_191-85del	XP_011526312.1:n.191-92_191-85del
XM_011528011.1:c.191-92_191-85del	XP_011526313.1:n.191-92_191-85del
XR_244074.2:n.341-92_341-85del
XM_011528010.2:c.191-92_191-85del	XP_011526312.1:n.191-92_191-85del
XR_001753685.2:n.308-92_308-85del
XR_001753686.2:n.308-92_308-85del
NM_000527.5:c.191-92_191-85del MANE Select	NP_000518.1:n.191-92_191-85del
NM_001195798.2:c.191-92_191-85del	NP_001182727.1:n.191-92_191-85del
NM_001195799.2:c.190+2227_190+2234del	NP_001182728.1:n.190+2227_190+2234del
NM_001195800.2:c.191-92_191-85del	NP_001182729.1:n.191-92_191-85del
NM_001195803.2:c.191-92_191-85del	NP_001182732.1:n.191-92_191-85del