Canonical Allele Identifier: CA2628334261

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472476-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472476_48472477insGC , CM000677.2:g.48472476_48472477insGC	GRCh38
NC_000015.9:g.48764673_48764674insGC , CM000677.1:g.48764673_48764674insGC	GRCh37
NC_000015.8:g.46551965_46551966insGC	NCBI36
NG_008805.2:g.178312_178313insGC , LRG_778:g.178312_178313insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+74_4336+75insGC	ENSP00000453958.2:n.4336+74_4336+75insGC
ENST00000674301.2:c.4336+74_4336+75insGC	ENSP00000501333.2:n.4336+74_4336+75insGC
ENST00000683268.1:n.303+74_303+75insGC
ENST00000684448.1:n.3010+74_3010+75insGC
ENST00000316623.10:c.4336+74_4336+75insGC MANE Select	ENSP00000325527.5:n.4336+74_4336+75insGC
ENST00000316623.9:c.4336+74_4336+75insGC	ENSP00000325527.5:n.4336+74_4336+75insGC
ENST00000537463.6:c.*99+74_*99+75insGC	ENSP00000440294.2:n.*99+74_*99+75insGC
NM_000138.4:c.4336+74_4336+75insGC , LRG_778t1:c.4336+74_4336+75insGC	NP_000129.3:n.4336+74_4336+75insGC
NM_000138.5:c.4336+74_4336+75insGC MANE Select	NP_000129.3:n.4336+74_4336+75insGC