Canonical Allele Identifier: CA2628330914

Gene: FBN1

Linked Data

• gnomAD v4: 15-48489778-G-GCTGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489782_48489783insCCTGA , CM000677.2:g.48489782_48489783insCCTGA	GRCh38
NC_000015.9:g.48781979_48781980insCCTGA , CM000677.1:g.48781979_48781980insCCTGA	GRCh37
NC_000015.8:g.46569271_46569272insCCTGA	NCBI36
NG_008805.2:g.161010_161011insGTCAG , LRG_778:g.161010_161011insGTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+72_3082+73insGTCAG	ENSP00000453958.2:n.3082+72_3082+73insGTCAG
ENST00000674301.2:c.3082+72_3082+73insGTCAG	ENSP00000501333.2:n.3082+72_3082+73insGTCAG
ENST00000684448.1:n.1756+72_1756+73insGTCAG
ENST00000316623.10:c.3082+72_3082+73insGTCAG MANE Select	ENSP00000325527.5:n.3082+72_3082+73insGTCAG
ENST00000316623.9:c.3082+72_3082+73insGTCAG	ENSP00000325527.5:n.3082+72_3082+73insGTCAG
ENST00000537463.6:c.637-15129_637-15128insGTCAG	ENSP00000440294.2:n.637-15129_637-15128insGTCAG
NM_000138.4:c.3082+72_3082+73insGTCAG , LRG_778t1:c.3082+72_3082+73insGTCAG	NP_000129.3:n.3082+72_3082+73insGTCAG
NM_000138.5:c.3082+72_3082+73insGTCAG MANE Select	NP_000129.3:n.3082+72_3082+73insGTCAG