Canonical Allele Identifier: CA2657290921
Gene: FBLN1 HGNC NCBI

Linked Data

gnomAD v4: 22-45566026-C-CCACTGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45566026_45566027insCACTGA , CM000684.2:g.45566026_45566027insCACTGA GRCh38
NC_000022.10:g.45961906_45961907insCACTGA , CM000684.1:g.45961906_45961907insCACTGA GRCh37
NC_000022.9:g.44340570_44340571insCACTGA NCBI36
NG_023308.2:g.68188_68189insCACTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000327858.11:c.1698-8485_1698-8484insCACTGA MANE Select ENSP00000331544.6:n.1698-8485_1698-8484insCACTGA
ENST00000327858.10:c.1698-8485_1698-8484insCACTGA ENSP00000331544.6:n.1698-8485_1698-8484insCACTGA
NM_006486.2:c.1698-8485_1698-8484insCACTGA NP_006477.2:n.1698-8485_1698-8484insCACTGA
NM_006486.3:c.1698-8485_1698-8484insCACTGA MANE Select NP_006477.3:n.1698-8485_1698-8484insCACTGA
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