Canonical Allele Identifier: CA2557762975

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410638_48410639insC , CM000677.2:g.48410638_48410639insC	GRCh38
NC_000015.9:g.48702835_48702836insC , CM000677.1:g.48702835_48702836insC	GRCh37
NC_000015.8:g.46490127_46490128insC	NCBI36
NG_008805.2:g.240150_240151insG , LRG_778:g.240150_240151insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1775_*1776insG	ENSP00000453958.2:n.*1775_*1776insG
ENST00000682158.1:n.2348_2349insG
ENST00000682170.1:n.3148_3149insG
ENST00000682767.1:n.2264_2265insG
ENST00000316623.10:c.*351_*352insG MANE Select	ENSP00000325527.5:n.*351_*352insG
ENST00000316623.9:c.*351_*352insG	ENSP00000325527.5:n.*351_*352insG
ENST00000559133.5:c.4336_4337insG
NM_000138.4:c.*351_*352insG , LRG_778t1:c.*351_*352insG	NP_000129.3:n.*351_*352insG
NM_000138.5:c.*351_*352insG MANE Select	NP_000129.3:n.*351_*352insG