Canonical Allele Identifier: CA2175526874

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504167_48504168delinsAG , CM000677.2:g.48504167_48504168delinsAG	GRCh38
NC_000015.9:g.48796364_48796365delinsAG , CM000677.1:g.48796364_48796365delinsAG	GRCh37
NC_000015.8:g.46583656_46583657delinsAG	NCBI36
NG_008805.2:g.146621_146622delinsCT , LRG_778:g.146621_146622delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1961-229_1961-228delinsCT	ENSP00000453958.2:n.1961-229_1961-228delinsCT
ENST00000674301.2:c.1961-229_1961-228delinsCT	ENSP00000501333.2:n.1961-229_1961-228delinsCT
ENST00000684448.1:n.635-229_635-228delinsCT
ENST00000316623.10:c.1961-229_1961-228delinsCT MANE Select	ENSP00000325527.5:n.1961-229_1961-228delinsCT
ENST00000316623.9:c.1961-229_1961-228delinsCT	ENSP00000325527.5:n.1961-229_1961-228delinsCT
ENST00000537463.6:c.637-29518_637-29517delinsCT	ENSP00000440294.2:n.637-29518_637-29517delinsCT
NM_000138.4:c.1961-229_1961-228delinsCT , LRG_778t1:c.1961-229_1961-228delinsCT	NP_000129.3:n.1961-229_1961-228delinsCT
NM_000138.5:c.1961-229_1961-228delinsCT MANE Select	NP_000129.3:n.1961-229_1961-228delinsCT