Canonical Allele Identifier: CA2322775605

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120445_11120446delinsAC , CM000681.2:g.11120445_11120446delinsAC	GRCh38
NC_000019.9:g.11231121_11231122delinsAC , CM000681.1:g.11231121_11231122delinsAC	GRCh37
NC_000019.8:g.11092121_11092122delinsAC	NCBI36
NG_009060.1:g.36065_36066delinsAC , LRG_274:g.36065_36066delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2321_2322delinsAC	ENSP00000252444.6:p.Asn774=
ENST00000559340.2:c.*132_*133delinsAC	ENSP00000453696.2:n.*132_*133delinsAC
ENST00000560467.2:c.1943_1944delinsAC	ENSP00000453513.2:p.Asn648=
ENST00000558518.6:c.2063_2064delinsAC MANE Select	ENSP00000454071.1:p.Asn688=
ENST00000252444.9:c.2317_2318delinsAC
ENST00000455727.6:c.1559_1560delinsAC	ENSP00000397829.2:p.Asn520=
ENST00000535915.5:c.1940_1941delinsAC	ENSP00000440520.1:p.Asn647=
ENST00000545707.5:c.1606+212_1606+213delinsAC	ENSP00000437639.1:n.1606+212_1606+213deli...
ENST00000557933.5:c.2063_2064delinsAC	ENSP00000453557.1:p.Asn688=
ENST00000558013.5:c.2063_2064delinsAC	ENSP00000453346.1:p.Asn688=
ENST00000558518.5:c.2063_2064delinsAC	ENSP00000454071.1:p.Asn688=
NM_000527.4:c.2063_2064delinsAC , LRG_274t1:c.2063_2064delinsAC	NP_000518.1:p.Asn688=
NM_001195798.1:c.2063_2064delinsAC	NP_001182727.1:p.Asn688=
NM_001195799.1:c.1940_1941delinsAC	NP_001182728.1:p.Asn647=
NM_001195800.1:c.1559_1560delinsAC	NP_001182729.1:p.Asn520=
NM_001195803.1:c.1606+212_1606+213delinsAC	NP_001182732.1:n.1606+212_1606+213delinsA...
XM_011528010.1:c.2063_2064delinsAC	XP_011526312.1:p.Asn688=
XM_011528011.1:c.1682_1683delinsAC	XP_011526313.1:p.Asn561=
XR_244074.2:n.2073_2074delinsAC
XM_011528010.2:c.2063_2064delinsAC	XP_011526312.1:p.Asn688=
XR_001753685.2:n.2180_2181delinsAC
XR_001753686.2:n.2040_2041delinsAC
NM_000527.5:c.2063_2064delinsAC MANE Select	NP_000518.1:p.Asn688=
NM_001195798.2:c.2063_2064delinsAC	NP_001182727.1:p.Asn688=
NM_001195799.2:c.1940_1941delinsAC	NP_001182728.1:p.Asn647=
NM_001195800.2:c.1559_1560delinsAC	NP_001182729.1:p.Asn520=
NM_001195803.2:c.1606+212_1606+213delinsAC	NP_001182732.1:n.1606+212_1606+213delinsA...