Canonical Allele Identifier: CA2575717303
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474599_48474600insCA , CM000677.2:g.48474599_48474600insCA GRCh38
NC_000015.9:g.48766796_48766797insCA , CM000677.1:g.48766796_48766797insCA GRCh37
NC_000015.8:g.46554088_46554089insCA NCBI36
NG_008805.2:g.176189_176190insTG , LRG_778:g.176189_176190insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4015_4016insTG ENSP00000453958.2:p.Cys1339LeufsTer?
ENST00000674301.2:c.4015_4016insTG ENSP00000501333.2:p.Cys1339LeufsTer?
ENST00000684448.1:n.2689_2690insTG
ENST00000316623.10:c.4015_4016insTG MANE Select ENSP00000325527.5:p.Cys1339LeufsTer?
ENST00000316623.9:c.4015_4016insTG ENSP00000325527.5:p.Cys1339LeufsTer?
ENST00000537463.6:c.687_688insTG ENSP00000440294.2:p.Val230TrpfsTer11
NM_000138.4:c.4015_4016insTG , LRG_778t1:c.4015_4016insTG NP_000129.3:p.Cys1339LeufsTer?
NM_000138.5:c.4015_4016insTG MANE Select NP_000129.3:p.Cys1339LeufsTer?
Search 100 bp 5'
Search 100 bp 3'