Canonical Allele Identifier: CA1139663890
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 942379
ClinVar RCV Id: RCV001212360
dbSNP Id: rs2043404761
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474586del , CM000677.2:g.48474586del GRCh38
NC_000015.9:g.48766783del , CM000677.1:g.48766783del GRCh37
NC_000015.8:g.46554075del NCBI36
NG_008805.2:g.176203del , LRG_778:g.176203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4029del ENSP00000453958.2:p.Gly1344GlufsTer?
ENST00000674301.2:c.4029del ENSP00000501333.2:p.Gly1344GlufsTer?
ENST00000684448.1:n.2703del
ENST00000316623.10:c.4029del MANE Select ENSP00000325527.5:p.Gly1344GlufsTer?
ENST00000316623.9:c.4029del ENSP00000325527.5:p.Gly1344GlufsTer?
ENST00000537463.6:c.701del ENSP00000440294.2:p.Gln234ArgfsTer6
NM_000138.4:c.4029del , LRG_778t1:c.4029del NP_000129.3:p.Gly1344GlufsTer?
NM_000138.5:c.4029del MANE Select NP_000129.3:p.Gly1344GlufsTer?
Search 100 bp 5'
Search 100 bp 3'