Canonical Allele Identifier: CA2175523999

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492481_48492482delinsGC , CM000677.2:g.48492481_48492482delinsGC	GRCh38
NC_000015.9:g.48784678_48784679delinsGC , CM000677.1:g.48784678_48784679delinsGC	GRCh37
NC_000015.8:g.46571970_46571971delinsGC	NCBI36
NG_008805.2:g.158307_158308delinsGC , LRG_778:g.158307_158308delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2833_2834delinsGC	ENSP00000453958.2:p.Ala945=
ENST00000674301.2:c.2833_2834delinsGC	ENSP00000501333.2:p.Ala945=
ENST00000684448.1:n.1507_1508delinsGC
ENST00000316623.10:c.2833_2834delinsGC MANE Select	ENSP00000325527.5:p.Ala945=
ENST00000316623.9:c.2833_2834delinsGC	ENSP00000325527.5:p.Ala945=
ENST00000537463.6:c.637-17832_637-17831delinsGC	ENSP00000440294.2:n.637-17832_637-17831delinsGC
NM_000138.4:c.2833_2834delinsGC , LRG_778t1:c.2833_2834delinsGC	NP_000129.3:p.Ala945=
NM_000138.5:c.2833_2834delinsGC MANE Select	NP_000129.3:p.Ala945=