Canonical Allele Identifier: CA2175529834

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509989_48509990delinsCT , CM000677.2:g.48509989_48509990delinsCT	GRCh38
NC_000015.9:g.48802186_48802187delinsCT , CM000677.1:g.48802186_48802187delinsCT	GRCh37
NC_000015.8:g.46589478_46589479delinsCT	NCBI36
NG_008805.2:g.140799_140800delinsAG , LRG_778:g.140799_140800delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1714+54_1714+55delinsAG	ENSP00000453958.2:n.1714+54_1714+55delinsAG
ENST00000674301.2:c.1714+54_1714+55delinsAG	ENSP00000501333.2:n.1714+54_1714+55delinsAG
ENST00000684448.1:n.388+54_388+55delinsAG
ENST00000316623.10:c.1714+54_1714+55delinsAG MANE Select	ENSP00000325527.5:n.1714+54_1714+55delinsAG
ENST00000316623.9:c.1714+54_1714+55delinsAG	ENSP00000325527.5:n.1714+54_1714+55delinsAG
ENST00000537463.6:c.636+27721_636+27722delinsAG	ENSP00000440294.2:n.636+27721_636+27722delinsAG
NM_000138.4:c.1714+54_1714+55delinsAG , LRG_778t1:c.1714+54_1714+55delinsAG	NP_000129.3:n.1714+54_1714+55delinsAG
NM_000138.5:c.1714+54_1714+55delinsAG MANE Select	NP_000129.3:n.1714+54_1714+55delinsAG