Canonical Allele Identifier: CA2695220604
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468489_48468490del , CM000677.2:g.48468489_48468490del GRCh38
NC_000015.9:g.48760686_48760687del , CM000677.1:g.48760686_48760687del GRCh37
NC_000015.8:g.46547978_46547979del NCBI36
NG_008805.2:g.182302_182303del , LRG_778:g.182302_182303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4507_4508del ENSP00000453958.2:p.Val1503GlnfsTer9
ENST00000674301.2:c.4507_4508del ENSP00000501333.2:p.Val1503GlnfsTer9
ENST00000684448.1:n.3181_3182del
ENST00000316623.10:c.4507_4508del MANE Select ENSP00000325527.5:p.Val1503GlnfsTer9
ENST00000316623.9:c.4507_4508del ENSP00000325527.5:p.Val1503GlnfsTer9
ENST00000537463.6:c.*270_*271del ENSP00000440294.2:n.*270_*271del
NM_000138.4:c.4507_4508del , LRG_778t1:c.4507_4508del NP_000129.3:p.Val1503GlnfsTer9
NM_000138.5:c.4507_4508del MANE Select NP_000129.3:p.Val1503GlnfsTer9
Search 100 bp 5'
Search 100 bp 3'