Canonical Allele Identifier: CA2580089685
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804143
ClinVar RCV Id: RCV002468881
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445408dup , CM000677.2:g.48445408dup GRCh38
NC_000015.9:g.48737605dup , CM000677.1:g.48737605dup GRCh37
NC_000015.8:g.46524897dup NCBI36
NG_008805.2:g.205381dup , LRG_778:g.205381dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5885dup ENSP00000453958.2:p.Tyr1962Ter
ENST00000674301.2:c.5885dup ENSP00000501333.2:p.Tyr1962Ter
ENST00000684448.1:n.4559dup
ENST00000316623.10:c.5885dup MANE Select ENSP00000325527.5:p.Tyr1962Ter
ENST00000674301.1:c.884dup ENSP00000501333.1:p.Tyr295Ter
ENST00000316623.9:c.5885dup ENSP00000325527.5:p.Tyr1962Ter
ENST00000537463.6:c.*1648dup ENSP00000440294.2:n.*1648dup
ENST00000559133.5:c.1192dup
ENST00000560820.1:n.5dup
NM_000138.4:c.5885dup , LRG_778t1:c.5885dup NP_000129.3:p.Tyr1962Ter
NM_000138.5:c.5885dup MANE Select NP_000129.3:p.Tyr1962Ter
Search 100 bp 5'
Search 100 bp 3'