Canonical Allele Identifier: CA2322776590

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11122227_11122228delinsAG , CM000681.2:g.11122227_11122228delinsAG	GRCh38
NC_000019.9:g.11232903_11232904delinsAG , CM000681.1:g.11232903_11232904delinsAG	GRCh37
NC_000019.8:g.11093903_11093904delinsAG	NCBI36
NG_009060.1:g.37847_37848delinsAG , LRG_274:g.37847_37848delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2399-947_2399-946delinsAG	ENSP00000252444.6:n.2399-947_2399-946deli...
ENST00000559340.2:c.*210-947_*210-946delinsAG	ENSP00000453696.2:n.*210-947_*210-946deli...
ENST00000560467.2:c.2021-947_2021-946delinsAG	ENSP00000453513.2:n.2021-947_2021-946deli...
ENST00000558518.6:c.2141-947_2141-946delinsAG MANE Select	ENSP00000454071.1:n.2141-947_2141-946deli...
ENST00000252444.9:c.2395-947_2395-946delinsAG
ENST00000455727.6:c.1637-947_1637-946delinsAG	ENSP00000397829.2:n.1637-947_1637-946deli...
ENST00000535915.5:c.2018-947_2018-946delinsAG	ENSP00000440520.1:n.2018-947_2018-946deli...
ENST00000545707.5:c.1607-947_1607-946delinsAG	ENSP00000437639.1:n.1607-947_1607-946deli...
ENST00000557933.5:c.2141-947_2141-946delinsAG	ENSP00000453557.1:n.2141-947_2141-946deli...
ENST00000558013.5:c.2141-947_2141-946delinsAG	ENSP00000453346.1:n.2141-947_2141-946deli...
ENST00000558518.5:c.2141-947_2141-946delinsAG	ENSP00000454071.1:n.2141-947_2141-946deli...
NM_000527.4:c.2141-947_2141-946delinsAG , LRG_274t1:c.2141-947_2141-946delinsAG	NP_000518.1:n.2141-947_2141-946delinsAG
NM_001195798.1:c.2141-947_2141-946delinsAG	NP_001182727.1:n.2141-947_2141-946delinsA...
NM_001195799.1:c.2018-947_2018-946delinsAG	NP_001182728.1:n.2018-947_2018-946delinsA...
NM_001195800.1:c.1637-947_1637-946delinsAG	NP_001182729.1:n.1637-947_1637-946delinsA...
NM_001195803.1:c.1607-947_1607-946delinsAG	NP_001182732.1:n.1607-947_1607-946delinsA...
XM_011528010.1:c.2141-947_2141-946delinsAG	XP_011526312.1:n.2141-947_2141-946delinsA...
XM_011528011.1:c.1760-947_1760-946delinsAG	XP_011526313.1:n.1760-947_1760-946delinsA...
XR_244074.2:n.2151-947_2151-946delinsAG
XM_011528010.2:c.2141-947_2141-946delinsAG	XP_011526312.1:n.2141-947_2141-946delinsA...
XR_001753685.2:n.2475-947_2475-946delinsAG
XR_001753686.2:n.2118-947_2118-946delinsAG
NM_000527.5:c.2141-947_2141-946delinsAG MANE Select	NP_000518.1:n.2141-947_2141-946delinsAG
NM_001195798.2:c.2141-947_2141-946delinsAG	NP_001182727.1:n.2141-947_2141-946delinsA...
NM_001195799.2:c.2018-947_2018-946delinsAG	NP_001182728.1:n.2018-947_2018-946delinsA...
NM_001195800.2:c.1637-947_1637-946delinsAG	NP_001182729.1:n.1637-947_1637-946delinsA...
NM_001195803.2:c.1607-947_1607-946delinsAG	NP_001182732.1:n.1607-947_1607-946delinsA...