Canonical Allele Identifier: CA2175520919

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489536_48489537delinsTC , CM000677.2:g.48489536_48489537delinsTC	GRCh38
NC_000015.9:g.48781733_48781734delinsTC , CM000677.1:g.48781733_48781734delinsTC	GRCh37
NC_000015.8:g.46569025_46569026delinsTC	NCBI36
NG_008805.2:g.161252_161253delinsGA , LRG_778:g.161252_161253delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+314_3082+315delinsGA	ENSP00000453958.2:n.3082+314_3082+315delinsGA
ENST00000674301.2:c.3082+314_3082+315delinsGA	ENSP00000501333.2:n.3082+314_3082+315delinsGA
ENST00000684448.1:n.1756+314_1756+315delinsGA
ENST00000316623.10:c.3082+314_3082+315delinsGA MANE Select	ENSP00000325527.5:n.3082+314_3082+315delinsGA
ENST00000316623.9:c.3082+314_3082+315delinsGA	ENSP00000325527.5:n.3082+314_3082+315delinsGA
ENST00000537463.6:c.637-14887_637-14886delinsGA	ENSP00000440294.2:n.637-14887_637-14886delinsGA
NM_000138.4:c.3082+314_3082+315delinsGA , LRG_778t1:c.3082+314_3082+315delinsGA	NP_000129.3:n.3082+314_3082+315delinsGA
NM_000138.5:c.3082+314_3082+315delinsGA MANE Select	NP_000129.3:n.3082+314_3082+315delinsGA