Canonical Allele Identifier: CA2175513695

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48486816_48486817delinsGC , CM000677.2:g.48486816_48486817delinsGC	GRCh38
NC_000015.9:g.48779013_48779014delinsGC , CM000677.1:g.48779013_48779014delinsGC	GRCh37
NC_000015.8:g.46566305_46566306delinsGC	NCBI36
NG_008805.2:g.163972_163973delinsGC , LRG_778:g.163972_163973delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+258_3589+259delinsGC	ENSP00000453958.2:n.3589+258_3589+259delinsGC
ENST00000674301.2:c.3589+258_3589+259delinsGC	ENSP00000501333.2:n.3589+258_3589+259delinsGC
ENST00000684448.1:n.2263+258_2263+259delinsGC
ENST00000316623.10:c.3589+258_3589+259delinsGC MANE Select	ENSP00000325527.5:n.3589+258_3589+259delinsGC
ENST00000316623.9:c.3589+258_3589+259delinsGC	ENSP00000325527.5:n.3589+258_3589+259delinsGC
ENST00000537463.6:c.637-12167_637-12166delinsGC	ENSP00000440294.2:n.637-12167_637-12166delinsGC
NM_000138.4:c.3589+258_3589+259delinsGC , LRG_778t1:c.3589+258_3589+259delinsGC	NP_000129.3:n.3589+258_3589+259delinsGC
NM_000138.5:c.3589+258_3589+259delinsGC MANE Select	NP_000129.3:n.3589+258_3589+259delinsGC