Canonical Allele Identifier: CA2628334332

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472531-G-GGGGGAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472531_48472532insGGGGAGCC , CM000677.2:g.48472531_48472532insGGGGAGCC	GRCh38
NC_000015.9:g.48764728_48764729insGGGGAGCC , CM000677.1:g.48764728_48764729insGGGGAGCC	GRCh37
NC_000015.8:g.46552020_46552021insGGGGAGCC	NCBI36
NG_008805.2:g.178257_178258insGGCTCCCC , LRG_778:g.178257_178258insGGCTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+19_4336+20insGGCTCCCC	ENSP00000453958.2:n.4336+19_4336+20insGGCTCCCC
ENST00000674301.2:c.4336+19_4336+20insGGCTCCCC	ENSP00000501333.2:n.4336+19_4336+20insGGCTCCCC
ENST00000683268.1:n.303+19_303+20insGGCTCCCC
ENST00000684448.1:n.3010+19_3010+20insGGCTCCCC
ENST00000316623.10:c.4336+19_4336+20insGGCTCCCC MANE Select	ENSP00000325527.5:n.4336+19_4336+20insGGCTCCCC
ENST00000316623.9:c.4336+19_4336+20insGGCTCCCC	ENSP00000325527.5:n.4336+19_4336+20insGGCTCCCC
ENST00000537463.6:c.*99+19_*99+20insGGCTCCCC	ENSP00000440294.2:n.*99+19_*99+20insGGCTCCCC
NM_000138.4:c.4336+19_4336+20insGGCTCCCC , LRG_778t1:c.4336+19_4336+20insGGCTCCCC	NP_000129.3:n.4336+19_4336+20insGGCTCCCC
NM_000138.5:c.4336+19_4336+20insGGCTCCCC MANE Select	NP_000129.3:n.4336+19_4336+20insGGCTCCCC