Canonical Allele Identifier: CA2628334262

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472476-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472476_48472477insCC , CM000677.2:g.48472476_48472477insCC	GRCh38
NC_000015.9:g.48764673_48764674insCC , CM000677.1:g.48764673_48764674insCC	GRCh37
NC_000015.8:g.46551965_46551966insCC	NCBI36
NG_008805.2:g.178312_178313insGG , LRG_778:g.178312_178313insGG

Transcript Alleles

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