Canonical Allele Identifier: CA2575717301
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474594_48474595del , CM000677.2:g.48474594_48474595del GRCh38
NC_000015.9:g.48766791_48766792del , CM000677.1:g.48766791_48766792del GRCh37
NC_000015.8:g.46554083_46554084del NCBI36
NG_008805.2:g.176194_176195del , LRG_778:g.176194_176195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4020_4021del ENSP00000453958.2:p.Asn1341TyrfsTer8
ENST00000674301.2:c.4020_4021del ENSP00000501333.2:p.Asn1341TyrfsTer8
ENST00000684448.1:n.2694_2695del
ENST00000316623.10:c.4020_4021del MANE Select ENSP00000325527.5:p.Asn1341TyrfsTer8
ENST00000316623.9:c.4020_4021del ENSP00000325527.5:p.Asn1341TyrfsTer8
ENST00000537463.6:c.692_693del ENSP00000440294.2:p.Pro231HisfsTer?
NM_000138.4:c.4020_4021del , LRG_778t1:c.4020_4021del NP_000129.3:p.Asn1341TyrfsTer8
NM_000138.5:c.4020_4021del MANE Select NP_000129.3:p.Asn1341TyrfsTer8
Search 100 bp 5'
Search 100 bp 3'