Canonical Allele Identifier: CA2695220630
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474278_48474286del , CM000677.2:g.48474278_48474286del GRCh38
NC_000015.9:g.48766475_48766483del , CM000677.1:g.48766475_48766483del GRCh37
NC_000015.8:g.46553767_46553775del NCBI36
NG_008805.2:g.176506_176514del , LRG_778:g.176506_176514del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4182_4190del ENSP00000453958.2:p.Tyr1395_Gly1397del
ENST00000674301.2:c.4182_4190del ENSP00000501333.2:p.Tyr1395_Gly1397del
ENST00000684448.1:n.2856_2864del
ENST00000316623.10:c.4182_4190del MANE Select ENSP00000325527.5:p.Tyr1395_Gly1397del
ENST00000316623.9:c.4182_4190del ENSP00000325527.5:p.Tyr1395_Gly1397del
ENST00000537463.6:c.854_862del ENSP00000440294.2:p.Asp285_Gln287del
NM_000138.4:c.4182_4190del , LRG_778t1:c.4182_4190del NP_000129.3:p.Tyr1395_Gly1397del
NM_000138.5:c.4182_4190del MANE Select NP_000129.3:p.Tyr1395_Gly1397del
Search 100 bp 5'
Search 100 bp 3'