Canonical Allele Identifier: CA2175526456

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503812_48503813delinsGC , CM000677.2:g.48503812_48503813delinsGC	GRCh38
NC_000015.9:g.48796009_48796010delinsGC , CM000677.1:g.48796009_48796010delinsGC	GRCh37
NC_000015.8:g.46583301_46583302delinsGC	NCBI36
NG_008805.2:g.146976_146977delinsGC , LRG_778:g.146976_146977delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2087_2088delinsGC	ENSP00000453958.2:p.Cys696=
ENST00000674301.2:c.2087_2088delinsGC	ENSP00000501333.2:p.Cys696=
ENST00000684448.1:n.761_762delinsGC
ENST00000316623.10:c.2087_2088delinsGC MANE Select	ENSP00000325527.5:p.Cys696=
ENST00000316623.9:c.2087_2088delinsGC	ENSP00000325527.5:p.Cys696=
ENST00000537463.6:c.637-29163_637-29162delinsGC	ENSP00000440294.2:n.637-29163_637-29162delinsGC
NM_000138.4:c.2087_2088delinsGC , LRG_778t1:c.2087_2088delinsGC	NP_000129.3:p.Cys696=
NM_000138.5:c.2087_2088delinsGC MANE Select	NP_000129.3:p.Cys696=