Canonical Allele Identifier: CA2695220642
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474621del , CM000677.2:g.48474621del GRCh38
NC_000015.9:g.48766818del , CM000677.1:g.48766818del GRCh37
NC_000015.8:g.46554110del NCBI36
NG_008805.2:g.176169del , LRG_778:g.176169del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3995del ENSP00000453958.2:p.Asn1332ThrfsTer?
ENST00000674301.2:c.3995del ENSP00000501333.2:p.Asn1332ThrfsTer?
ENST00000684448.1:n.2669del
ENST00000316623.10:c.3995del MANE Select ENSP00000325527.5:p.Asn1332ThrfsTer?
ENST00000316623.9:c.3995del ENSP00000325527.5:p.Asn1332ThrfsTer?
ENST00000537463.6:c.667del ENSP00000440294.2:p.Thr223LeufsTer17
NM_000138.4:c.3995del , LRG_778t1:c.3995del NP_000129.3:p.Asn1332ThrfsTer?
NM_000138.5:c.3995del MANE Select NP_000129.3:p.Asn1332ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'