Canonical Allele Identifier: CA016944
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48427731_48427732del , CM000677.2:g.48427731_48427732del GRCh38
NC_000015.9:g.48719928_48719929del , CM000677.1:g.48719928_48719929del GRCh37
NC_000015.8:g.46507220_46507221del NCBI36
NG_008805.2:g.223057_223058del , LRG_778:g.223057_223058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.7101_7102del ENSP00000453958.2:p.Val2369GlnfsTer?
ENST00000674301.2:c.*552_*553del ENSP00000501333.2:n.*552_*553del
ENST00000682170.1:n.1220_1221del
ENST00000682767.1:n.336_337del
ENST00000316623.10:c.7039_7040del MANE Select ENSP00000325527.5:p.Met2347ValfsTer19
ENST00000674301.1:c.2205_2206del ENSP00000501333.1:n.2205_2206del
ENST00000316623.9:c.7039_7040del ENSP00000325527.5:p.Met2347ValfsTer19
ENST00000559133.5:c.2408_2409del
NM_000138.4:c.7039_7040del , LRG_778t1:c.7039_7040del NP_000129.3:p.Met2347ValfsTer19
NM_000138.5:c.7039_7040del MANE Select NP_000129.3:p.Met2347ValfsTer19
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