Canonical Allele Identifier: CA2504554227

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467964_48467965insTTCTGTGT , CM000677.2:g.48467964_48467965insTTCTGTGT	GRCh38
NC_000015.9:g.48760161_48760162insTTCTGTGT , CM000677.1:g.48760161_48760162insTTCTGTGT	GRCh37
NC_000015.8:g.46547453_46547454insTTCTGTGT	NCBI36
NG_008805.2:g.182824_182825insACACAGAA , LRG_778:g.182824_182825insACACAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4720_4721insACACAGAA	ENSP00000453958.2:p.Cys1574TyrfsTer10
ENST00000674301.2:c.4720_4721insACACAGAA	ENSP00000501333.2:p.Cys1574TyrfsTer10
ENST00000684448.1:n.3394_3395insACACAGAA
ENST00000316623.10:c.4720_4721insACACAGAA MANE Select	ENSP00000325527.5:p.Cys1574TyrfsTer10
ENST00000316623.9:c.4720_4721insACACAGAA	ENSP00000325527.5:p.Cys1574TyrfsTer10
ENST00000537463.6:c.*483_*484insACACAGAA	ENSP00000440294.2:n.*483_*484insACACAGAA
ENST00000559133.5:c.27_28insACACAGAA
NM_000138.4:c.4720_4721insACACAGAA , LRG_778t1:c.4720_4721insACACAGAA	NP_000129.3:p.Cys1574TyrfsTer10
NM_000138.5:c.4720_4721insACACAGAA MANE Select	NP_000129.3:p.Cys1574TyrfsTer10