Canonical Allele Identifier: CA2175512025

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485480_48485481delinsGC , CM000677.2:g.48485480_48485481delinsGC	GRCh38
NC_000015.9:g.48777677_48777678delinsGC , CM000677.1:g.48777677_48777678delinsGC	GRCh37
NC_000015.8:g.46564969_46564970delinsGC	NCBI36
NG_008805.2:g.165308_165309delinsGC , LRG_778:g.165308_165309delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3605_3606delinsGC	ENSP00000453958.2:p.Ser1202=
ENST00000674301.2:c.3605_3606delinsGC	ENSP00000501333.2:p.Ser1202=
ENST00000684448.1:n.2279_2280delinsGC
ENST00000316623.10:c.3605_3606delinsGC MANE Select	ENSP00000325527.5:p.Ser1202=
ENST00000316623.9:c.3605_3606delinsGC	ENSP00000325527.5:p.Ser1202=
ENST00000537463.6:c.637-10831_637-10830delinsGC	ENSP00000440294.2:n.637-10831_637-10830delinsGC
NM_000138.4:c.3605_3606delinsGC , LRG_778t1:c.3605_3606delinsGC	NP_000129.3:p.Ser1202=
NM_000138.5:c.3605_3606delinsGC MANE Select	NP_000129.3:p.Ser1202=