Canonical Allele Identifier: CA916082401
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 843388
ClinVar RCV Id: RCV001046002
dbSNP Id: rs2043529080
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48488466_48488469dup , CM000677.2:g.48488466_48488469dup GRCh38
NC_000015.9:g.48780663_48780666dup , CM000677.1:g.48780663_48780666dup GRCh37
NC_000015.8:g.46567955_46567958dup NCBI36
NG_008805.2:g.162322_162325dup , LRG_778:g.162322_162325dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3109_3112dup ENSP00000453958.2:p.Leu1038GlnfsTer16
ENST00000674301.2:c.3109_3112dup ENSP00000501333.2:p.Leu1038GlnfsTer16
ENST00000684448.1:n.1783_1786dup
ENST00000316623.10:c.3109_3112dup MANE Select ENSP00000325527.5:p.Leu1038GlnfsTer16
ENST00000316623.9:c.3109_3112dup ENSP00000325527.5:p.Leu1038GlnfsTer16
ENST00000537463.6:c.637-13817_637-13814dup ENSP00000440294.2:n.637-13817_637-13814dup
NM_000138.4:c.3109_3112dup , LRG_778t1:c.3109_3112dup NP_000129.3:p.Leu1038GlnfsTer16
NM_000138.5:c.3109_3112dup MANE Select NP_000129.3:p.Leu1038GlnfsTer16
Search 100 bp 5'
Search 100 bp 3'