Canonical Allele Identifier: CA2628325174

Gene: FBN1

Linked Data

• gnomAD v4: 15-48412531-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412531_48412532insAA , CM000677.2:g.48412531_48412532insAA	GRCh38
NC_000015.9:g.48704728_48704729insAA , CM000677.1:g.48704728_48704729insAA	GRCh37
NC_000015.8:g.46492020_46492021insAA	NCBI36
NG_008805.2:g.238257_238258insTT , LRG_778:g.238257_238258insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1034+37_*1034+38insTT	ENSP00000453958.2:n.*1034+37_*1034+38insTT
ENST00000674301.2:c.*1739+37_*1739+38insTT	ENSP00000501333.2:n.*1739+37_*1739+38insTT
ENST00000682158.1:n.1607+37_1607+38insTT
ENST00000682170.1:n.2407+37_2407+38insTT
ENST00000682767.1:n.1523+37_1523+38insTT
ENST00000316623.10:c.8226+37_8226+38insTT MANE Select	ENSP00000325527.5:n.8226+37_8226+38insTT
ENST00000674301.1:c.3392+37_3392+38insTT	ENSP00000501333.1:n.3392+37_3392+38insTT
ENST00000316623.9:c.8226+37_8226+38insTT	ENSP00000325527.5:n.8226+37_8226+38insTT
ENST00000559133.5:c.3595+37_3595+38insTT
ENST00000561429.1:n.481+37_481+38insTT
NM_000138.4:c.8226+37_8226+38insTT , LRG_778t1:c.8226+37_8226+38insTT	NP_000129.3:n.8226+37_8226+38insTT
NM_000138.5:c.8226+37_8226+38insTT MANE Select	NP_000129.3:n.8226+37_8226+38insTT