Canonical Allele Identifier: CA012323
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200148
ClinVar RCV Id: RCV000181651
dbSNP Id: rs794728296
MyVariant Identifiers: chr15:g.48802321_48802331del (hg19) chr15:g.48510124_48510134del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48510124_48510134del , CM000677.2:g.48510124_48510134del GRCh38
NC_000015.9:g.48802321_48802331del , CM000677.1:g.48802321_48802331del GRCh37
NC_000015.8:g.46589613_46589623del NCBI36
NG_008805.2:g.140655_140665del , LRG_778:g.140655_140665del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1624_1634del ENSP00000453958.2:p.Asn542LeufsTer13
ENST00000674301.2:c.1624_1634del ENSP00000501333.2:p.Asn542LeufsTer13
ENST00000684448.1:n.298_308del
ENST00000316623.10:c.1624_1634del MANE Select ENSP00000325527.5:p.Asn542LeufsTer13
ENST00000316623.9:c.1624_1634del ENSP00000325527.5:p.Asn542LeufsTer13
ENST00000537463.6:c.636+27577_636+27587del ENSP00000440294.2:n.636+27577_636+27587de...
NM_000138.4:c.1624_1634del , LRG_778t1:c.1624_1634del NP_000129.3:p.Asn542LeufsTer13
NM_000138.5:c.1624_1634del MANE Select NP_000129.3:p.Asn542LeufsTer13
Search 100 bp 5'
Search 100 bp 3'