Canonical Allele Identifier: CA948066651
Gene: LRP1 HGNC NCBI

Linked Data

gnomAD v3: 12-57133492-A-ACGGC
gnomAD v4: 12-57133492-A-ACGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57133492_57133493insCGGC , CM000674.2:g.57133492_57133493insCGGC GRCh38
NC_000012.11:g.57527275_57527276insCGGC , CM000674.1:g.57527275_57527276insCGGC GRCh37
NC_000012.10:g.55813542_55813543insCGGC NCBI36
NG_016444.1:g.9994_9995insCGGC
NG_021272.2:g.3647_3648insGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000243077.8:c.67+4461_67+4462insCGGC MANE Select ENSP00000243077.3:n.67+4461_67+4462insCGGC
ENST00000243077.7:c.67+4461_67+4462insCGGC ENSP00000243077.3:n.67+4461_67+4462insCGGC
ENST00000338962.8:c.67+4461_67+4462insCGGC ENSP00000341264.4:n.67+4461_67+4462insCGGC
ENST00000553277.5:c.67+4461_67+4462insCGGC ENSP00000451449.1:n.67+4461_67+4462insCGGC
ENST00000554174.1:c.67+4461_67+4462insCGGC ENSP00000451737.1:n.67+4461_67+4462insCGGC
NM_002332.2:c.67+4461_67+4462insCGGC NP_002323.2:n.67+4461_67+4462insCGGC
XM_017019303.1:c.67+4461_67+4462insCGGC XP_016874792.1:n.67+4461_67+4462insCGGC
NM_002332.3:c.67+4461_67+4462insCGGC MANE Select NP_002323.2:n.67+4461_67+4462insCGGC
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