Canonical Allele Identifier: CA2695220625
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472633dup , CM000677.2:g.48472633dup GRCh38
NC_000015.9:g.48764830dup , CM000677.1:g.48764830dup GRCh37
NC_000015.8:g.46552122dup NCBI36
NG_008805.2:g.178157dup , LRG_778:g.178157dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4255dup ENSP00000453958.2:p.Gln1419ProfsTer12
ENST00000674301.2:c.4255dup ENSP00000501333.2:p.Gln1419ProfsTer12
ENST00000683268.1:n.222dup
ENST00000684448.1:n.2929dup
ENST00000316623.10:c.4255dup MANE Select ENSP00000325527.5:p.Gln1419ProfsTer12
ENST00000316623.9:c.4255dup ENSP00000325527.5:p.Gln1419ProfsTer12
ENST00000537463.6:c.*18dup ENSP00000440294.2:n.*18dup
NM_000138.4:c.4255dup , LRG_778t1:c.4255dup NP_000129.3:p.Gln1419ProfsTer12
NM_000138.5:c.4255dup MANE Select NP_000129.3:p.Gln1419ProfsTer12
Search 100 bp 5'
Search 100 bp 3'