Canonical Allele Identifier: CA017330
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36117
ClinVar RCV Id: RCV000029779
dbSNP Id: rs193922235
MyVariant Identifiers: chr15:g.48713776del (hg19) chr15:g.48421579del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421579del , CM000677.2:g.48421579del GRCh38
NC_000015.9:g.48713776del , CM000677.1:g.48713776del GRCh37
NC_000015.8:g.46501068del NCBI36
NG_008805.2:g.229210del , LRG_778:g.229210del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*486del ENSP00000453958.2:n.*486del
ENST00000674301.2:c.*1191del ENSP00000501333.2:n.*1191del
ENST00000682170.1:n.1859del
ENST00000682767.1:n.975del
ENST00000316623.10:c.7678del MANE Select ENSP00000325527.5:p.Gln2560ArgfsTer?
ENST00000674301.1:c.2844del ENSP00000501333.1:n.2844del
ENST00000316623.9:c.7678del ENSP00000325527.5:p.Gln2560ArgfsTer?
ENST00000559133.5:c.3047del
NM_000138.4:c.7678del , LRG_778t1:c.7678del NP_000129.3:p.Gln2560ArgfsTer?
NM_000138.5:c.7678del MANE Select NP_000129.3:p.Gln2560ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'