Canonical Allele Identifier: CA2175526716

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503918_48503938delinsCATGTGCTCCGCATGTGTGTG , CM000677.2:g.48503918_48503938delinsCATGTGCTCCGCATGTGTGTG	GRCh38
NC_000015.9:g.48796115_48796135delinsCATGTGCTCCGCATGTGTGTG , CM000677.1:g.48796115_48796135delinsCATGTGCTCCGCATGTGTGTG	GRCh37
NC_000015.8:g.46583407_46583427delinsCATGTGCTCCGCATGTGTGTG	NCBI36
NG_008805.2:g.146851_146871delinsCACACACATGCGGAGCACATG , LRG_778:g.146851_146871delinsCACACACATGCGGAGCACATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1962_1982delinsCACACACATGCGGAGCACATG	ENSP00000453958.2:p.Asp654=
ENST00000674301.2:c.1962_1982delinsCACACACATGCGGAGCACATG	ENSP00000501333.2:p.Asp654=
ENST00000684448.1:n.636_656delinsCACACACATGCGGAGCACATG
ENST00000316623.10:c.1962_1982delinsCACACACATGCGGAGCACATG MANE Select	ENSP00000325527.5:p.Asp654=
ENST00000316623.9:c.1962_1982delinsCACACACATGCGGAGCACATG	ENSP00000325527.5:p.Asp654=
ENST00000537463.6:c.637-29288_637-29268delinsCACACACATGCGGAGCACATG	ENSP00000440294.2:n.637-29288_637-29268delinsCACACACATGCGGAGC...
NM_000138.4:c.1962_1982delinsCACACACATGCGGAGCACATG , LRG_778t1:c.1962_1982delinsCACACACATGCGGAGCACATG	NP_000129.3:p.Asp654=
NM_000138.5:c.1962_1982delinsCACACACATGCGGAGCACATG MANE Select	NP_000129.3:p.Asp654=