Canonical Allele Identifier: CA269528360

Gene: FBN1

Linked Data

• dbSNP Id: rs398122326

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487044dup , CM000677.2:g.48487044dup	GRCh38
NC_000015.9:g.48779241dup , CM000677.1:g.48779241dup	GRCh37
NC_000015.8:g.46566533dup	NCBI36
NG_008805.2:g.163748dup , LRG_778:g.163748dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+34dup	ENSP00000453958.2:n.3589+34dup
ENST00000674301.2:c.3589+34dup	ENSP00000501333.2:n.3589+34dup
ENST00000684448.1:n.2263+34dup
ENST00000316623.10:c.3589+34dup MANE Select	ENSP00000325527.5:n.3589+34dup
ENST00000316623.9:c.3589+34dup	ENSP00000325527.5:n.3589+34dup
ENST00000537463.6:c.637-12391dup	ENSP00000440294.2:n.637-12391dup
NM_000138.4:c.3589+34dup , LRG_778t1:c.3589+34dup	NP_000129.3:n.3589+34dup
NM_000138.5:c.3589+34dup MANE Select	NP_000129.3:n.3589+34dup