Canonical Allele Identifier: CA2175526392

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503800_48503801delinsAG , CM000677.2:g.48503800_48503801delinsAG	GRCh38
NC_000015.9:g.48795997_48795998delinsAG , CM000677.1:g.48795997_48795998delinsAG	GRCh37
NC_000015.8:g.46583289_46583290delinsAG	NCBI36
NG_008805.2:g.146988_146989delinsCT , LRG_778:g.146988_146989delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2099_2100delinsCT	ENSP00000453958.2:p.Pro700=
ENST00000674301.2:c.2099_2100delinsCT	ENSP00000501333.2:p.Pro700=
ENST00000684448.1:n.773_774delinsCT
ENST00000316623.10:c.2099_2100delinsCT MANE Select	ENSP00000325527.5:p.Pro700=
ENST00000316623.9:c.2099_2100delinsCT	ENSP00000325527.5:p.Pro700=
ENST00000537463.6:c.637-29151_637-29150delinsCT	ENSP00000440294.2:n.637-29151_637-29150delinsCT
NM_000138.4:c.2099_2100delinsCT , LRG_778t1:c.2099_2100delinsCT	NP_000129.3:p.Pro700=
NM_000138.5:c.2099_2100delinsCT MANE Select	NP_000129.3:p.Pro700=