Canonical Allele Identifier: CA2730571294

Gene: FBN1

Linked Data

• dbSNP Id: rs143836403

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488314_48488319dup , CM000677.2:g.48488314_48488319dup	GRCh38
NC_000015.9:g.48780511_48780516dup , CM000677.1:g.48780511_48780516dup	GRCh37
NC_000015.8:g.46567803_46567808dup	NCBI36
NG_008805.2:g.162476_162481dup , LRG_778:g.162476_162481dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3208+55_3208+60dup	ENSP00000453958.2:n.3208+55_3208+60dup
ENST00000674301.2:c.3208+55_3208+60dup	ENSP00000501333.2:n.3208+55_3208+60dup
ENST00000684448.1:n.1882+55_1882+60dup
ENST00000316623.10:c.3208+55_3208+60dup MANE Select	ENSP00000325527.5:n.3208+55_3208+60dup
ENST00000316623.9:c.3208+55_3208+60dup	ENSP00000325527.5:n.3208+55_3208+60dup
ENST00000537463.6:c.637-13663_637-13658dup	ENSP00000440294.2:n.637-13663_637-13658du...
NM_000138.4:c.3208+55_3208+60dup , LRG_778t1:c.3208+55_3208+60dup	NP_000129.3:n.3208+55_3208+60dup
NM_000138.5:c.3208+55_3208+60dup MANE Select	NP_000129.3:n.3208+55_3208+60dup