Canonical Allele Identifier: CA2741427198

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48513539_48513540insCTCACGC , CM000677.2:g.48513539_48513540insCTCACGC	GRCh38
NC_000015.9:g.48805736_48805737insCTCACGC , CM000677.1:g.48805736_48805737insCTCACGC	GRCh37
NC_000015.8:g.46593028_46593029insCTCACGC	NCBI36
NG_008805.2:g.137249_137250insGCGTGAG , LRG_778:g.137249_137250insGCGTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1588+9_1588+10insGCGTGAG	ENSP00000453958.2:n.1588+9_1588+10insGCGT...
ENST00000674301.2:c.1588+9_1588+10insGCGTGAG	ENSP00000501333.2:n.1588+9_1588+10insGCGT...
ENST00000684448.1:n.262+9_262+10insGCGTGAG
ENST00000316623.10:c.1588+9_1588+10insGCGTGAG MANE Select	ENSP00000325527.5:n.1588+9_1588+10insGCGT...
ENST00000316623.9:c.1588+9_1588+10insGCGTGAG	ENSP00000325527.5:n.1588+9_1588+10insGCGT...
ENST00000537463.6:c.636+24171_636+24172insGCGTGAG	ENSP00000440294.2:n.636+24171_636+24172in...
NM_000138.4:c.1588+9_1588+10insGCGTGAG , LRG_778t1:c.1588+9_1588+10insGCGTGAG	NP_000129.3:n.1588+9_1588+10insGCGTGAG
NM_000138.5:c.1588+9_1588+10insGCGTGAG MANE Select	NP_000129.3:n.1588+9_1588+10insGCGTGAG