Canonical Allele Identifier: CA2322775402
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120180_11120181delinsAC , CM000681.2:g.11120180_11120181delinsAC GRCh38
NC_000019.9:g.11230856_11230857delinsAC , CM000681.1:g.11230856_11230857delinsAC GRCh37
NC_000019.8:g.11091856_11091857delinsAC NCBI36
NG_009060.1:g.35800_35801delinsAC , LRG_274:g.35800_35801delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2192_2193delinsAC ENSP00000252444.6:p.Asn731=
ENST00000559340.2:c.*3_*4delinsAC ENSP00000453696.2:n.*3_*4delinsAC
ENST00000560467.2:c.1814_1815delinsAC ENSP00000453513.2:p.Asn605=
ENST00000558518.6:c.1934_1935delinsAC MANE Select ENSP00000454071.1:p.Asn645=
ENST00000252444.9:c.2188_2189delinsAC
ENST00000455727.6:c.1430_1431delinsAC ENSP00000397829.2:p.Asn477=
ENST00000535915.5:c.1811_1812delinsAC ENSP00000440520.1:p.Asn604=
ENST00000545707.5:c.1553_1554delinsAC ENSP00000437639.1:p.Asn518=
ENST00000557933.5:c.1934_1935delinsAC ENSP00000453557.1:p.Asn645=
ENST00000558013.5:c.1934_1935delinsAC ENSP00000453346.1:p.Asn645=
ENST00000558518.5:c.1934_1935delinsAC ENSP00000454071.1:p.Asn645=
ENST00000559340.1:c.515_516delinsAC
NM_000527.4:c.1934_1935delinsAC , LRG_274t1:c.1934_1935delinsAC NP_000518.1:p.Asn645=
NM_001195798.1:c.1934_1935delinsAC NP_001182727.1:p.Asn645=
NM_001195799.1:c.1811_1812delinsAC NP_001182728.1:p.Asn604=
NM_001195800.1:c.1430_1431delinsAC NP_001182729.1:p.Asn477=
NM_001195803.1:c.1553_1554delinsAC NP_001182732.1:p.Asn518=
XM_011528010.1:c.1934_1935delinsAC XP_011526312.1:p.Asn645=
XM_011528011.1:c.1553_1554delinsAC XP_011526313.1:p.Asn518=
XR_244074.2:n.1944_1945delinsAC
XM_011528010.2:c.1934_1935delinsAC XP_011526312.1:p.Asn645=
XR_001753685.2:n.2051_2052delinsAC
XR_001753686.2:n.1911_1912delinsAC
NM_000527.5:c.1934_1935delinsAC MANE Select NP_000518.1:p.Asn645=
NM_001195798.2:c.1934_1935delinsAC NP_001182727.1:p.Asn645=
NM_001195799.2:c.1811_1812delinsAC NP_001182728.1:p.Asn604=
NM_001195800.2:c.1430_1431delinsAC NP_001182729.1:p.Asn477=
NM_001195803.2:c.1553_1554delinsAC NP_001182732.1:p.Asn518=