Canonical Allele Identifier: CA269521743

Gene: FBN1

Linked Data

• dbSNP Id: rs1011408761
• gnomAD v4: 15-48428206-T-TA
• MyVariant Identifiers: chr15:g.48720403_48720404insA (hg19) ; chr15:g.48428206_48428207insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428207dup , CM000677.2:g.48428207dup	GRCh38
NC_000015.9:g.48720404dup , CM000677.1:g.48720404dup	GRCh37
NC_000015.8:g.46507696dup	NCBI36
NG_008805.2:g.222582dup , LRG_778:g.222582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+139dup	ENSP00000453958.2:n.6997+139dup
ENST00000674301.2:c.*448+139dup	ENSP00000501333.2:n.*448+139dup
ENST00000682170.1:n.745dup
ENST00000682767.1:n.232+139dup
ENST00000316623.10:c.6997+139dup MANE Select	ENSP00000325527.5:n.6997+139dup
ENST00000674301.1:c.2101+139dup	ENSP00000501333.1:n.2101+139dup
ENST00000316623.9:c.6997+139dup	ENSP00000325527.5:n.6997+139dup
ENST00000559133.5:c.2304+139dup
ENST00000560720.1:n.423dup
NM_000138.4:c.6997+139dup , LRG_778t1:c.6997+139dup	NP_000129.3:n.6997+139dup
NM_000138.5:c.6997+139dup MANE Select	NP_000129.3:n.6997+139dup