Canonical Allele Identifier: CA2580096711
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1786148
ClinVar RCV Id: RCV002417525
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120496_11120502delinsG , CM000681.2:g.11120496_11120502delinsG GRCh38
NC_000019.9:g.11231172_11231178delinsG , CM000681.1:g.11231172_11231178delinsG GRCh37
NC_000019.8:g.11092172_11092178delinsG NCBI36
NG_009060.1:g.36116_36122delinsG , LRG_274:g.36116_36122delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2372_2378delinsG ENSP00000252444.6:p.Ala791_Asp793delinsGly
ENST00000559340.2:c.*183_*189delinsG ENSP00000453696.2:n.*183_*189delinsG
ENST00000560467.2:c.1994_2000delinsG ENSP00000453513.2:p.Ala665_Asp667delinsGly
ENST00000558518.6:c.2114_2120delinsG MANE Select ENSP00000454071.1:p.Ala705_Asp707delinsGly
ENST00000252444.9:c.2368_2374delinsG
ENST00000455727.6:c.1610_1616delinsG ENSP00000397829.2:p.Ala537_Asp539delinsGly
ENST00000535915.5:c.1991_1997delinsG ENSP00000440520.1:p.Ala664_Asp666delinsGly
ENST00000545707.5:c.1606+263_1606+269delinsG ENSP00000437639.1:n.1606+263_1606+269delinsG
ENST00000557933.5:c.2114_2120delinsG ENSP00000453557.1:p.Ala705_Asp707delinsGly
ENST00000558013.5:c.2114_2120delinsG ENSP00000453346.1:p.Ala705_Asp707delinsGly
ENST00000558518.5:c.2114_2120delinsG ENSP00000454071.1:p.Ala705_Asp707delinsGly
NM_000527.4:c.2114_2120delinsG , LRG_274t1:c.2114_2120delinsG NP_000518.1:p.Ala705_Asp707delinsGly
NM_001195798.1:c.2114_2120delinsG NP_001182727.1:p.Ala705_Asp707delinsGly
NM_001195799.1:c.1991_1997delinsG NP_001182728.1:p.Ala664_Asp666delinsGly
NM_001195800.1:c.1610_1616delinsG NP_001182729.1:p.Ala537_Asp539delinsGly
NM_001195803.1:c.1606+263_1606+269delinsG NP_001182732.1:n.1606+263_1606+269delinsG
XM_011528010.1:c.2114_2120delinsG XP_011526312.1:p.Ala705_Asp707delinsGly
XM_011528011.1:c.1733_1739delinsG XP_011526313.1:p.Ala578_Asp580delinsGly
XR_244074.2:n.2124_2130delinsG
XM_011528010.2:c.2114_2120delinsG XP_011526312.1:p.Ala705_Asp707delinsGly
XR_001753685.2:n.2231_2237delinsG
XR_001753686.2:n.2091_2097delinsG
NM_000527.5:c.2114_2120delinsG MANE Select NP_000518.1:p.Ala705_Asp707delinsGly
NM_001195798.2:c.2114_2120delinsG NP_001182727.1:p.Ala705_Asp707delinsGly
NM_001195799.2:c.1991_1997delinsG NP_001182728.1:p.Ala664_Asp666delinsGly
NM_001195800.2:c.1610_1616delinsG NP_001182729.1:p.Ala537_Asp539delinsGly
NM_001195803.2:c.1606+263_1606+269delinsG NP_001182732.1:n.1606+263_1606+269delinsG
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