Canonical Allele Identifier: CA2175486121

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411061_48411063delinsATT , CM000677.2:g.48411061_48411063delinsATT	GRCh38
NC_000015.9:g.48703258_48703260delinsATT , CM000677.1:g.48703258_48703260delinsATT	GRCh37
NC_000015.8:g.46490550_46490552delinsATT	NCBI36
NG_008805.2:g.239726_239728delinsAAT , LRG_778:g.239726_239728delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1351_*1353delinsAAT	ENSP00000453958.2:n.*1351_*1353delinsAAT
ENST00000682158.1:n.1924_1926delinsAAT
ENST00000682170.1:n.2724_2726delinsAAT
ENST00000682767.1:n.1840_1842delinsAAT
ENST00000316623.10:c.8543_8545delinsAAT MANE Select	ENSP00000325527.5:p.Lys2848=
ENST00000316623.9:c.8543_8545delinsAAT	ENSP00000325527.5:p.Lys2848=
ENST00000559133.5:c.3912_3914delinsAAT
NM_000138.4:c.8543_8545delinsAAT , LRG_778t1:c.8543_8545delinsAAT	NP_000129.3:p.Lys2848=
NM_000138.5:c.8543_8545delinsAAT MANE Select	NP_000129.3:p.Lys2848=