Canonical Allele Identifier: CA2175486188

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411082_48411086delinsGTTCT , CM000677.2:g.48411082_48411086delinsGTTCT	GRCh38
NC_000015.9:g.48703279_48703283delinsGTTCT , CM000677.1:g.48703279_48703283delinsGTTCT	GRCh37
NC_000015.8:g.46490571_46490575delinsGTTCT	NCBI36
NG_008805.2:g.239703_239707delinsAGAAC , LRG_778:g.239703_239707delinsAGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1328_*1332delinsAGAAC	ENSP00000453958.2:n.*1328_*1332delinsAGAAC
ENST00000682158.1:n.1901_1905delinsAGAAC
ENST00000682170.1:n.2701_2705delinsAGAAC
ENST00000682767.1:n.1817_1821delinsAGAAC
ENST00000316623.10:c.8520_8524delinsAGAAC MANE Select	ENSP00000325527.5:p.Lys2840=
ENST00000316623.9:c.8520_8524delinsAGAAC	ENSP00000325527.5:p.Lys2840=
ENST00000559133.5:c.3889_3893delinsAGAAC
NM_000138.4:c.8520_8524delinsAGAAC , LRG_778t1:c.8520_8524delinsAGAAC	NP_000129.3:p.Lys2840=
NM_000138.5:c.8520_8524delinsAGAAC MANE Select	NP_000129.3:p.Lys2840=