Canonical Allele Identifier: CA2695220631
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474315_48474327del , CM000677.2:g.48474315_48474327del GRCh38
NC_000015.9:g.48766512_48766524del , CM000677.1:g.48766512_48766524del GRCh37
NC_000015.8:g.46553804_46553816del NCBI36
NG_008805.2:g.176464_176476del , LRG_778:g.176464_176476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4140_4152del ENSP00000453958.2:p.Cys1380TrpfsTer29
ENST00000674301.2:c.4140_4152del ENSP00000501333.2:p.Cys1380TrpfsTer29
ENST00000684448.1:n.2814_2826del
ENST00000316623.10:c.4140_4152del MANE Select ENSP00000325527.5:p.Cys1380TrpfsTer29
ENST00000316623.9:c.4140_4152del ENSP00000325527.5:p.Cys1380TrpfsTer29
ENST00000537463.6:c.812_824del ENSP00000440294.2:p.Ala271GlyfsTer14
NM_000138.4:c.4140_4152del , LRG_778t1:c.4140_4152del NP_000129.3:p.Cys1380TrpfsTer29
NM_000138.5:c.4140_4152del MANE Select NP_000129.3:p.Cys1380TrpfsTer29
Search 100 bp 5'
Search 100 bp 3'