Canonical Allele Identifier: CA2740096597
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2953885
ClinVar RCV Id: RCV003813108
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474604dup , CM000677.2:g.48474604dup GRCh38
NC_000015.9:g.48766801dup , CM000677.1:g.48766801dup GRCh37
NC_000015.8:g.46554093dup NCBI36
NG_008805.2:g.176185dup , LRG_778:g.176185dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4011dup ENSP00000453958.2:p.Val1338CysfsTer12
ENST00000674301.2:c.4011dup ENSP00000501333.2:p.Val1338CysfsTer12
ENST00000684448.1:n.2685dup
ENST00000316623.10:c.4011dup MANE Select ENSP00000325527.5:p.Val1338CysfsTer12
ENST00000316623.9:c.4011dup ENSP00000325527.5:p.Val1338CysfsTer12
ENST00000537463.6:c.683dup ENSP00000440294.2:p.Tyr229ValfsTer?
NM_000138.4:c.4011dup , LRG_778t1:c.4011dup NP_000129.3:p.Val1338CysfsTer12
NM_000138.5:c.4011dup MANE Select NP_000129.3:p.Val1338CysfsTer12
Search 100 bp 5'
Search 100 bp 3'