Canonical Allele Identifier: CA2175526667

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503896_48503897delinsGC , CM000677.2:g.48503896_48503897delinsGC	GRCh38
NC_000015.9:g.48796093_48796094delinsGC , CM000677.1:g.48796093_48796094delinsGC	GRCh37
NC_000015.8:g.46583385_46583386delinsGC	NCBI36
NG_008805.2:g.146892_146893delinsGC , LRG_778:g.146892_146893delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2003_2004delinsGC	ENSP00000453958.2:p.Gly668=
ENST00000674301.2:c.2003_2004delinsGC	ENSP00000501333.2:p.Gly668=
ENST00000684448.1:n.677_678delinsGC
ENST00000316623.10:c.2003_2004delinsGC MANE Select	ENSP00000325527.5:p.Gly668=
ENST00000316623.9:c.2003_2004delinsGC	ENSP00000325527.5:p.Gly668=
ENST00000537463.6:c.637-29247_637-29246delinsGC	ENSP00000440294.2:n.637-29247_637-29246delinsGC
NM_000138.4:c.2003_2004delinsGC , LRG_778t1:c.2003_2004delinsGC	NP_000129.3:p.Gly668=
NM_000138.5:c.2003_2004delinsGC MANE Select	NP_000129.3:p.Gly668=