Canonical Allele Identifier: CA916082396
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 854447
ClinVar RCV Id: RCV001059506
dbSNP Id: rs2043404959
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4011del ENSP00000453958.2:p.Val1338TyrfsTer?
ENST00000674301.2:c.4011del ENSP00000501333.2:p.Val1338TyrfsTer?
ENST00000684448.1:n.2685del
ENST00000316623.10:c.4011del MANE Select ENSP00000325527.5:p.Val1338TyrfsTer?
ENST00000316623.9:c.4011del ENSP00000325527.5:p.Val1338TyrfsTer?
ENST00000537463.6:c.683del ENSP00000440294.2:p.Leu228ArgfsTer12
NM_000138.4:c.4011del , LRG_778t1:c.4011del NP_000129.3:p.Val1338TyrfsTer?
NM_000138.5:c.4011del MANE Select NP_000129.3:p.Val1338TyrfsTer?
Search 100 bp 5'
Search 100 bp 3'