Canonical Allele Identifier: CA7547900
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs777584324
ExAC: 15:48707693 G / GA
gnomAD v2: 15-48707693-G-GA
gnomAD v4: 15-48415496-G-GA
MyVariant Identifiers: chr15:g.48707693_48707694insA (hg19) chr15:g.48415496_48415497insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415499dup , CM000677.2:g.48415499dup GRCh38
NC_000015.9:g.48707696dup , CM000677.1:g.48707696dup GRCh37
NC_000015.8:g.46494988dup NCBI36
NG_008805.2:g.235292dup , LRG_778:g.235292dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*859+39dup ENSP00000453958.2:n.*859+39dup
ENST00000674301.2:c.*1564+39dup ENSP00000501333.2:n.*1564+39dup
ENST00000682158.1:n.1432+39dup
ENST00000682170.1:n.2232+39dup
ENST00000682767.1:n.1348+39dup
ENST00000316623.10:c.8051+39dup MANE Select ENSP00000325527.5:n.8051+39dup
ENST00000674301.1:c.3217+39dup ENSP00000501333.1:n.3217+39dup
ENST00000316623.9:c.8051+39dup ENSP00000325527.5:n.8051+39dup
ENST00000559133.5:c.3420+39dup
ENST00000561429.1:n.306+39dup
NM_000138.4:c.8051+39dup , LRG_778t1:c.8051+39dup NP_000129.3:n.8051+39dup
NM_000138.5:c.8051+39dup MANE Select NP_000129.3:n.8051+39dup
Search 100 bp 5'
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