Canonical Allele Identifier: CA969561078

Gene: FBN1

Linked Data

• dbSNP Id: rs2043383843
• gnomAD v3: 15-48472458-T-TAAC
• gnomAD v4: 15-48472458-T-TAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472460_48472461insCAA , CM000677.2:g.48472460_48472461insCAA	GRCh38
NC_000015.9:g.48764657_48764658insCAA , CM000677.1:g.48764657_48764658insCAA	GRCh37
NC_000015.8:g.46551949_46551950insCAA	NCBI36
NG_008805.2:g.178330_178331insGTT , LRG_778:g.178330_178331insGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+92_4336+93insGTT	ENSP00000453958.2:n.4336+92_4336+93insGTT
ENST00000674301.2:c.4336+92_4336+93insGTT	ENSP00000501333.2:n.4336+92_4336+93insGTT
ENST00000683268.1:n.303+92_303+93insGTT
ENST00000684448.1:n.3010+92_3010+93insGTT
ENST00000316623.10:c.4336+92_4336+93insGTT MANE Select	ENSP00000325527.5:n.4336+92_4336+93insGTT
ENST00000316623.9:c.4336+92_4336+93insGTT	ENSP00000325527.5:n.4336+92_4336+93insGTT
ENST00000537463.6:c.*99+92_*99+93insGTT	ENSP00000440294.2:n.*99+92_*99+93insGTT
NM_000138.4:c.4336+92_4336+93insGTT , LRG_778t1:c.4336+92_4336+93insGTT	NP_000129.3:n.4336+92_4336+93insGTT
NM_000138.5:c.4336+92_4336+93insGTT MANE Select	NP_000129.3:n.4336+92_4336+93insGTT