Canonical Allele Identifier: CA948066626
Gene: LRP1 HGNC NCBI

Linked Data

gnomAD v3: 12-57133479-TGAGCC-T
gnomAD v4: 12-57133479-TGAGCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57133480_57133484del , CM000674.2:g.57133480_57133484del GRCh38
NC_000012.11:g.57527263_57527267del , CM000674.1:g.57527263_57527267del GRCh37
NC_000012.10:g.55813530_55813534del NCBI36
NG_016444.1:g.9982_9986del
NG_021272.2:g.3656_3660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243077.8:c.67+4449_67+4453del MANE Select ENSP00000243077.3:n.67+4449_67+4453del
ENST00000243077.7:c.67+4449_67+4453del ENSP00000243077.3:n.67+4449_67+4453del
ENST00000338962.8:c.67+4449_67+4453del ENSP00000341264.4:n.67+4449_67+4453del
ENST00000553277.5:c.67+4449_67+4453del ENSP00000451449.1:n.67+4449_67+4453del
ENST00000554174.1:c.67+4449_67+4453del ENSP00000451737.1:n.67+4449_67+4453del
NM_002332.2:c.67+4449_67+4453del NP_002323.2:n.67+4449_67+4453del
XM_017019303.1:c.67+4449_67+4453del XP_016874792.1:n.67+4449_67+4453del
NM_002332.3:c.67+4449_67+4453del MANE Select NP_002323.2:n.67+4449_67+4453del
Search 100 bp 5'
Search 100 bp 3'