Canonical Allele Identifier: CA2573150807
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687424
ClinVar RCV Id: RCV002251106
dbSNP Id: rs2141291345
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485446_48485447del , CM000677.2:g.48485446_48485447del GRCh38
NC_000015.9:g.48777643_48777644del , CM000677.1:g.48777643_48777644del GRCh37
NC_000015.8:g.46564935_46564936del NCBI36
NG_008805.2:g.165343_165344del , LRG_778:g.165343_165344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3640_3641del ENSP00000453958.2:p.Asn1214LeufsTer2
ENST00000674301.2:c.3640_3641del ENSP00000501333.2:p.Asn1214LeufsTer2
ENST00000684448.1:n.2314_2315del
ENST00000316623.10:c.3640_3641del MANE Select ENSP00000325527.5:p.Asn1214LeufsTer2
ENST00000316623.9:c.3640_3641del ENSP00000325527.5:p.Asn1214LeufsTer2
ENST00000537463.6:c.637-10796_637-10795del ENSP00000440294.2:n.637-10796_637-10795del
NM_000138.4:c.3640_3641del , LRG_778t1:c.3640_3641del NP_000129.3:p.Asn1214LeufsTer2
NM_000138.5:c.3640_3641del MANE Select NP_000129.3:p.Asn1214LeufsTer2
Search 100 bp 5'
Search 100 bp 3'