Canonical Allele Identifier: CA2804074467

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610915_48610916insCAG , CM000677.2:g.48610915_48610916insCAG	GRCh38
NC_000015.9:g.48903112_48903113insCAG , CM000677.1:g.48903112_48903113insCAG	GRCh37
NC_000015.8:g.46690404_46690405insCAG	NCBI36
NG_008805.2:g.39873_39874insCTG , LRG_778:g.39873_39874insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.248-90_248-89insCTG	ENSP00000453958.2:n.248-90_248-89insCTG
ENST00000674301.2:c.248-90_248-89insCTG	ENSP00000501333.2:n.248-90_248-89insCTG
ENST00000316623.10:c.248-90_248-89insCTG MANE Select	ENSP00000325527.5:n.248-90_248-89insCTG
ENST00000316623.9:c.248-90_248-89insCTG	ENSP00000325527.5:n.248-90_248-89insCTG
ENST00000537463.6:c.248-90_248-89insCTG	ENSP00000440294.2:n.248-90_248-89insCTG
NM_000138.4:c.248-90_248-89insCTG , LRG_778t1:c.248-90_248-89insCTG	NP_000129.3:n.248-90_248-89insCTG
NM_000138.5:c.248-90_248-89insCTG MANE Select	NP_000129.3:n.248-90_248-89insCTG