Canonical Allele Identifier: CA2175523920

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492425_48492428delinsAATT , CM000677.2:g.48492425_48492428delinsAATT	GRCh38
NC_000015.9:g.48784622_48784625delinsAATT , CM000677.1:g.48784622_48784625delinsAATT	GRCh37
NC_000015.8:g.46571914_46571917delinsAATT	NCBI36
NG_008805.2:g.158361_158364delinsAATT , LRG_778:g.158361_158364delinsAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+33_2854+36delinsAATT	ENSP00000453958.2:n.2854+33_2854+36delinsAATT
ENST00000674301.2:c.2854+33_2854+36delinsAATT	ENSP00000501333.2:n.2854+33_2854+36delinsAATT
ENST00000684448.1:n.1528+33_1528+36delinsAATT
ENST00000316623.10:c.2854+33_2854+36delinsAATT MANE Select	ENSP00000325527.5:n.2854+33_2854+36delinsAATT
ENST00000316623.9:c.2854+33_2854+36delinsAATT	ENSP00000325527.5:n.2854+33_2854+36delinsAATT
ENST00000537463.6:c.637-17778_637-17775delinsAATT	ENSP00000440294.2:n.637-17778_637-17775delinsAATT
NM_000138.4:c.2854+33_2854+36delinsAATT , LRG_778t1:c.2854+33_2854+36delinsAATT	NP_000129.3:n.2854+33_2854+36delinsAATT
NM_000138.5:c.2854+33_2854+36delinsAATT MANE Select	NP_000129.3:n.2854+33_2854+36delinsAATT