Canonical Allele Identifier: CA16619948
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419612
ClinVar RCV Id: RCV000481806
dbSNP Id: rs1064793989
MyVariant Identifiers: chr15:g.48736770del (hg19) chr15:g.48444573del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48444574del , CM000677.2:g.48444574del GRCh38
NC_000015.9:g.48736771del , CM000677.1:g.48736771del GRCh37
NC_000015.8:g.46524063del NCBI36
NG_008805.2:g.206216del , LRG_778:g.206216del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6005del ENSP00000453958.2:p.Pro2002LeufsTer?
ENST00000674301.2:c.6005del ENSP00000501333.2:p.Pro2002LeufsTer?
ENST00000684448.1:n.4679del
ENST00000316623.10:c.6005del MANE Select ENSP00000325527.5:p.Pro2002LeufsTer?
ENST00000674301.1:c.1004del ENSP00000501333.1:p.Pro335LeufsTer?
ENST00000316623.9:c.6005del ENSP00000325527.5:p.Pro2002LeufsTer?
ENST00000537463.6:c.*1768del ENSP00000440294.2:n.*1768del
ENST00000559133.5:c.1312del
ENST00000560820.1:n.125del
NM_000138.4:c.6005del , LRG_778t1:c.6005del NP_000129.3:p.Pro2002LeufsTer?
NM_000138.5:c.6005del MANE Select NP_000129.3:p.Pro2002LeufsTer?
Search 100 bp 5'
Search 100 bp 3'