Canonical Allele Identifier: CA2695220770

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503929dup , CM000677.2:g.48503929dup	GRCh38
NC_000015.9:g.48796126dup , CM000677.1:g.48796126dup	GRCh37
NC_000015.8:g.46583418dup	NCBI36
NG_008805.2:g.146860dup , LRG_778:g.146860dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1971dup	ENSP00000453958.2:p.Arg658AlafsTer23
ENST00000674301.2:c.1971dup	ENSP00000501333.2:p.Arg658AlafsTer23
ENST00000684448.1:n.645dup
ENST00000316623.10:c.1971dup MANE Select	ENSP00000325527.5:p.Arg658AlafsTer23
ENST00000316623.9:c.1971dup	ENSP00000325527.5:p.Arg658AlafsTer23
ENST00000537463.6:c.637-29279dup	ENSP00000440294.2:n.637-29279dup
NM_000138.4:c.1971dup , LRG_778t1:c.1971dup	NP_000129.3:p.Arg658AlafsTer23
NM_000138.5:c.1971dup MANE Select	NP_000129.3:p.Arg658AlafsTer23