Canonical Allele Identifier: CA015869
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36088
ClinVar RCV Id: RCV001174891
dbSNP Id: rs193922212
MyVariant Identifiers: chr15:g.48744776_48744783del (hg19) chr15:g.48452579_48452586del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48452580_48452587del , CM000677.2:g.48452580_48452587del GRCh38
NC_000015.9:g.48744777_48744784del , CM000677.1:g.48744777_48744784del GRCh37
NC_000015.8:g.46532069_46532076del NCBI36
NG_008805.2:g.198203_198210del , LRG_778:g.198203_198210del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5521_5528del ENSP00000453958.2:p.Phe1841HisfsTer6
ENST00000674301.2:c.5521_5528del ENSP00000501333.2:p.Phe1841HisfsTer6
ENST00000684448.1:n.4195_4202del
ENST00000316623.10:c.5521_5528del MANE Select ENSP00000325527.5:p.Phe1841HisfsTer6
ENST00000674301.1:c.520_527del ENSP00000501333.1:p.Phe174HisfsTer6
ENST00000316623.9:c.5521_5528del ENSP00000325527.5:p.Phe1841HisfsTer6
ENST00000537463.6:c.*1284_*1291del ENSP00000440294.2:n.*1284_*1291del
ENST00000559133.5:c.828_835del
NM_000138.4:c.5521_5528del , LRG_778t1:c.5521_5528del NP_000129.3:p.Phe1841HisfsTer6
NM_000138.5:c.5521_5528del MANE Select NP_000129.3:p.Phe1841HisfsTer6
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