Canonical Allele Identifier: CA2175509331
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483799_48483801delinsTTC , CM000677.2:g.48483799_48483801delinsTTC GRCh38
NC_000015.9:g.48775996_48775998delinsTTC , CM000677.1:g.48775996_48775998delinsTTC GRCh37
NC_000015.8:g.46563288_46563290delinsTTC NCBI36
NG_008805.2:g.166988_166990delinsGAA , LRG_778:g.166988_166990delinsGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3838+17_3838+19delinsGAA ENSP00000453958.2:n.3838+17_3838+19delins...
ENST00000674301.2:c.3838+17_3838+19delinsGAA ENSP00000501333.2:n.3838+17_3838+19delins...
ENST00000684448.1:n.2512+17_2512+19delinsGAA
ENST00000316623.10:c.3838+17_3838+19delinsGAA MANE Select ENSP00000325527.5:n.3838+17_3838+19delins...
ENST00000316623.9:c.3838+17_3838+19delinsGAA ENSP00000325527.5:n.3838+17_3838+19delins...
ENST00000537463.6:c.637-9151_637-9149delinsGAA ENSP00000440294.2:n.637-9151_637-9149deli...
NM_000138.4:c.3838+17_3838+19delinsGAA , LRG_778t1:c.3838+17_3838+19delinsGAA NP_000129.3:n.3838+17_3838+19delinsGAA
NM_000138.5:c.3838+17_3838+19delinsGAA MANE Select NP_000129.3:n.3838+17_3838+19delinsGAA
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