Canonical Allele Identifier: CA645597537

Gene: FBN1

Linked Data

• COSMIC: COSM5849294

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412643_48412644del , CM000677.2:g.48412643_48412644del	GRCh38
NC_000015.9:g.48704840_48704841del , CM000677.1:g.48704840_48704841del	GRCh37
NC_000015.8:g.46492132_46492133del	NCBI36
NG_008805.2:g.238147_238148del , LRG_778:g.238147_238148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*961_*962del	ENSP00000453958.2:n.*961_*962del
ENST00000674301.2:c.*1666_*1667del	ENSP00000501333.2:n.*1666_*1667del
ENST00000682158.1:n.1534_1535del
ENST00000682170.1:n.2334_2335del
ENST00000682767.1:n.1450_1451del
ENST00000316623.10:c.8153_8154del MANE Select	ENSP00000325527.5:p.Cys2718Ter
ENST00000674301.1:c.3319_3320del	ENSP00000501333.1:n.3319_3320del
ENST00000316623.9:c.8153_8154del	ENSP00000325527.5:p.Cys2718Ter
ENST00000559133.5:c.3522_3523del
ENST00000561429.1:n.408_409del
NM_000138.4:c.8153_8154del , LRG_778t1:c.8153_8154del	NP_000129.3:p.Cys2718Ter
NM_000138.5:c.8153_8154del MANE Select	NP_000129.3:p.Cys2718Ter