Canonical Allele Identifier: CA2628332805

Gene: FBN1

Linked Data

• gnomAD v4: 15-48434718-A-AGCGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434718_48434719insGCGAT , CM000677.2:g.48434718_48434719insGCGAT	GRCh38
NC_000015.9:g.48726915_48726916insGCGAT , CM000677.1:g.48726915_48726916insGCGAT	GRCh37
NC_000015.8:g.46514207_46514208insGCGAT	NCBI36
NG_008805.2:g.216070_216071insATCGC , LRG_778:g.216070_216071insATCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6497-6_6497-5insATCGC	ENSP00000453958.2:n.6497-6_6497-5insATCGC
ENST00000674301.2:c.6497-6_6497-5insATCGC	ENSP00000501333.2:n.6497-6_6497-5insATCGC
ENST00000682170.1:n.106-6_106-5insATCGC
ENST00000316623.10:c.6497-6_6497-5insATCGC MANE Select	ENSP00000325527.5:n.6497-6_6497-5insATCGC
ENST00000674301.1:c.1496-6_1496-5insATCGC	ENSP00000501333.1:n.1496-6_1496-5insATCGC
ENST00000316623.9:c.6497-6_6497-5insATCGC	ENSP00000325527.5:n.6497-6_6497-5insATCGC
ENST00000537463.6:c.*2260-6_*2260-5insATCGC	ENSP00000440294.2:n.*2260-6_*2260-5insATCGC
ENST00000559133.5:c.1804-6_1804-5insATCGC
NM_000138.4:c.6497-6_6497-5insATCGC , LRG_778t1:c.6497-6_6497-5insATCGC	NP_000129.3:n.6497-6_6497-5insATCGC
NM_000138.5:c.6497-6_6497-5insATCGC MANE Select	NP_000129.3:n.6497-6_6497-5insATCGC