Canonical Allele Identifier: CA2175513065
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445135_48445145delinsTACACACACAC , CM000677.2:g.48445135_48445145delinsTACACACACAC GRCh38
NC_000015.9:g.48737332_48737342delinsTACACACACAC , CM000677.1:g.48737332_48737342delinsTACACACACAC GRCh37
NC_000015.8:g.46524624_46524634delinsTACACACACAC NCBI36
NG_008805.2:g.205644_205654delinsGTGTGTGTGTA , LRG_778:g.205644_205654delinsGTGTGTGTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+231_5917+241delinsGTGTGTGTGTA ENSP00000453958.2:n.5917+231_5917+241delinsGTGTGTGTGTA
ENST00000674301.2:c.5917+231_5917+241delinsGTGTGTGTGTA ENSP00000501333.2:n.5917+231_5917+241delinsGTGTGTGTGTA
ENST00000684448.1:n.4591+231_4591+241delinsGTGTGTGTGTA
ENST00000316623.10:c.5917+231_5917+241delinsGTGTGTGTGTA MANE Select ENSP00000325527.5:n.5917+231_5917+241delinsGTGTGTGTGTA
ENST00000674301.1:c.916+231_916+241delinsGTGTGTGTGTA ENSP00000501333.1:n.916+231_916+241delinsGTGTGTGTGTA
ENST00000316623.9:c.5917+231_5917+241delinsGTGTGTGTGTA ENSP00000325527.5:n.5917+231_5917+241delinsGTGTGTGTGTA
ENST00000537463.6:c.*1680+231_*1680+241delinsGTGTGTGTGTA ENSP00000440294.2:n.*1680+231_*1680+241delinsGTGTGTGTGTA
ENST00000559133.5:c.1224+231_1224+241delinsGTGTGTGTGTA
ENST00000560820.1:n.37+231_37+241delinsGTGTGTGTGTA
NM_000138.4:c.5917+231_5917+241delinsGTGTGTGTGTA , LRG_778t1:c.5917+231_5917+241delinsGTGTGTGTGTA NP_000129.3:n.5917+231_5917+241delinsGTGTGTGTGTA
NM_000138.5:c.5917+231_5917+241delinsGTGTGTGTGTA MANE Select NP_000129.3:n.5917+231_5917+241delinsGTGTGTGTGTA
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