Canonical Allele Identifier: CA2695202074

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503854_48503857del , CM000677.2:g.48503854_48503857del	GRCh38
NC_000015.9:g.48796051_48796054del , CM000677.1:g.48796051_48796054del	GRCh37
NC_000015.8:g.46583343_46583346del	NCBI36
NG_008805.2:g.146934_146937del , LRG_778:g.146934_146937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2045_2048del	ENSP00000453958.2:p.Glu682AlafsTer?
ENST00000674301.2:c.2045_2048del	ENSP00000501333.2:p.Glu682AlafsTer?
ENST00000684448.1:n.719_722del
ENST00000316623.10:c.2045_2048del MANE Select	ENSP00000325527.5:p.Glu682AlafsTer?
ENST00000316623.9:c.2045_2048del	ENSP00000325527.5:p.Glu682AlafsTer?
ENST00000537463.6:c.637-29205_637-29202del	ENSP00000440294.2:n.637-29205_637-29202del
NM_000138.4:c.2045_2048del , LRG_778t1:c.2045_2048del	NP_000129.3:p.Glu682AlafsTer?
NM_000138.5:c.2045_2048del MANE Select	NP_000129.3:p.Glu682AlafsTer?