Canonical Allele Identifier: CA912980574

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703548_48703549del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411352_48411353del , CM000677.2:g.48411352_48411353del	GRCh38
NC_000015.9:g.48703549_48703550del , CM000677.1:g.48703549_48703550del	GRCh37
NC_000015.8:g.46490841_46490842del	NCBI36
NG_008805.2:g.239437_239438del , LRG_778:g.239437_239438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1062_*1063del	ENSP00000453958.2:n.*1062_*1063del
ENST00000674301.2:c.*1767_*1768del	ENSP00000501333.2:n.*1767_*1768del
ENST00000682158.1:n.1635_1636del
ENST00000682170.1:n.2435_2436del
ENST00000682767.1:n.1551_1552del
ENST00000316623.10:c.8254_8255del MANE Select	ENSP00000325527.5:p.Leu2753CysfsTer6
ENST00000674301.1:c.3420_3421del	ENSP00000501333.1:n.3420_3421del
ENST00000316623.9:c.8254_8255del	ENSP00000325527.5:p.Leu2753CysfsTer6
ENST00000559133.5:c.3623_3624del
ENST00000561429.1:n.509_510del
NM_000138.4:c.8254_8255del , LRG_778t1:c.8254_8255del	NP_000129.3:p.Leu2753CysfsTer6
NM_000138.5:c.8254_8255del MANE Select	NP_000129.3:p.Leu2753CysfsTer6