Canonical Allele Identifier: CA16614783
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406300
ClinVar RCV Id: RCV000474420 RCV001382995
dbSNP Id: rs1060501042
MyVariant Identifiers: chr15:g.48713803_48713804insT (hg19) chr15:g.48421606_48421607insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421606_48421607insT , CM000677.2:g.48421606_48421607insT GRCh38
NC_000015.9:g.48713803_48713804insT , CM000677.1:g.48713803_48713804insT GRCh37
NC_000015.8:g.46501095_46501096insT NCBI36
NG_008805.2:g.229182_229183insA , LRG_778:g.229182_229183insA

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*458_*459insA ENSP00000453958.2:n.*458_*459insA
ENST00000674301.2:c.*1163_*1164insA ENSP00000501333.2:n.*1163_*1164insA
ENST00000682170.1:n.1831_1832insA
ENST00000682767.1:n.947_948insA
ENST00000316623.10:c.7650_7651insA MANE Select ENSP00000325527.5:p.Glu2551ArgfsTer9
ENST00000674301.1:c.2816_2817insA ENSP00000501333.1:n.2816_2817insA
ENST00000316623.9:c.7650_7651insA ENSP00000325527.5:p.Glu2551ArgfsTer9
ENST00000559133.5:c.3019_3020insA
NM_000138.4:c.7650_7651insA , LRG_778t1:c.7650_7651insA NP_000129.3:p.Glu2551ArgfsTer9
NM_000138.5:c.7650_7651insA MANE Select NP_000129.3:p.Glu2551ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'