Canonical Allele Identifier: CA2175513196
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445155_48445157delinsTAC , CM000677.2:g.48445155_48445157delinsTAC GRCh38
NC_000015.9:g.48737352_48737354delinsTAC , CM000677.1:g.48737352_48737354delinsTAC GRCh37
NC_000015.8:g.46524644_46524646delinsTAC NCBI36
NG_008805.2:g.205632_205634delinsGTA , LRG_778:g.205632_205634delinsGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+219_5917+221delinsGTA ENSP00000453958.2:n.5917+219_5917+221delinsGTA
ENST00000674301.2:c.5917+219_5917+221delinsGTA ENSP00000501333.2:n.5917+219_5917+221delinsGTA
ENST00000684448.1:n.4591+219_4591+221delinsGTA
ENST00000316623.10:c.5917+219_5917+221delinsGTA MANE Select ENSP00000325527.5:n.5917+219_5917+221delinsGTA
ENST00000674301.1:c.916+219_916+221delinsGTA ENSP00000501333.1:n.916+219_916+221delinsGTA
ENST00000316623.9:c.5917+219_5917+221delinsGTA ENSP00000325527.5:n.5917+219_5917+221delinsGTA
ENST00000537463.6:c.*1680+219_*1680+221delinsGTA ENSP00000440294.2:n.*1680+219_*1680+221delinsGTA
ENST00000559133.5:c.1224+219_1224+221delinsGTA
ENST00000560820.1:n.37+219_37+221delinsGTA
NM_000138.4:c.5917+219_5917+221delinsGTA , LRG_778t1:c.5917+219_5917+221delinsGTA NP_000129.3:n.5917+219_5917+221delinsGTA
NM_000138.5:c.5917+219_5917+221delinsGTA MANE Select NP_000129.3:n.5917+219_5917+221delinsGTA
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