Canonical Allele Identifier: CA2592751061

Gene: FBN1

Linked Data

• gnomAD v3: 15-48494082-A-AT
• gnomAD v4: 15-48494082-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494090dup , CM000677.2:g.48494090dup	GRCh38
NC_000015.9:g.48786287dup , CM000677.1:g.48786287dup	GRCh37
NC_000015.8:g.46573579dup	NCBI36
NG_008805.2:g.156706dup , LRG_778:g.156706dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+121dup	ENSP00000453958.2:n.2728+121dup
ENST00000674301.2:c.2728+121dup	ENSP00000501333.2:n.2728+121dup
ENST00000684448.1:n.1402+121dup
ENST00000316623.10:c.2728+121dup MANE Select	ENSP00000325527.5:n.2728+121dup
ENST00000316623.9:c.2728+121dup	ENSP00000325527.5:n.2728+121dup
ENST00000537463.6:c.637-19433dup	ENSP00000440294.2:n.637-19433dup
NM_000138.4:c.2728+121dup , LRG_778t1:c.2728+121dup	NP_000129.3:n.2728+121dup
NM_000138.5:c.2728+121dup MANE Select	NP_000129.3:n.2728+121dup