Canonical Allele Identifier: CA2175521410
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489962_48489985delinsCAGTACCCCAGGCTGCCCCGACGG , CM000677.2:g.48489962_48489985delinsCAGTACCCCAGGCTGCCCCGACGG GRCh38
NC_000015.9:g.48782159_48782182delinsCAGTACCCCAGGCTGCCCCGACGG , CM000677.1:g.48782159_48782182delinsCAGTACCCCAGGCTGCCCCGACGG GRCh37
NC_000015.8:g.46569451_46569474delinsCAGTACCCCAGGCTGCCCCGACGG NCBI36
NG_008805.2:g.160804_160827delinsCCGTCGGGGCAGCCTGGGGTACTG , LRG_778:g.160804_160827delinsCCGTCGGGGCAGCCTGGGGTACTG

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2948_2971delinsCCGTCGGGGCAGCCTGGGGTACTG ENSP00000453958.2:p.Ser983=
ENST00000674301.2:c.2948_2971delinsCCGTCGGGGCAGCCTGGGGTACTG ENSP00000501333.2:p.Ser983=
ENST00000684448.1:n.1622_1645delinsCCGTCGGGGCAGCCTGGGGTACTG
ENST00000316623.10:c.2948_2971delinsCCGTCGGGGCAGCCTGGGGTACTG MANE Select ENSP00000325527.5:p.Ser983=
ENST00000316623.9:c.2948_2971delinsCCGTCGGGGCAGCCTGGGGTACTG ENSP00000325527.5:p.Ser983=
ENST00000537463.6:c.637-15335_637-15312delinsCCGTCGGGGCAGCCTGGGGTACTG ENSP00000440294.2:n.637-15335_637-15312de...
NM_000138.4:c.2948_2971delinsCCGTCGGGGCAGCCTGGGGTACTG , LRG_778t1:c.2948_2971delinsCCGTCGGGGCAGCCTGGGGTACTG NP_000129.3:p.Ser983=
NM_000138.5:c.2948_2971delinsCCGTCGGGGCAGCCTGGGGTACTG MANE Select NP_000129.3:p.Ser983=