Canonical Allele Identifier: CA2175526182

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494239_48494250delinsTTACCACATATG , CM000677.2:g.48494239_48494250delinsTTACCACATATG	GRCh38
NC_000015.9:g.48786436_48786447delinsTTACCACATATG , CM000677.1:g.48786436_48786447delinsTTACCACATATG	GRCh37
NC_000015.8:g.46573728_46573739delinsTTACCACATATG	NCBI36
NG_008805.2:g.156539_156550delinsCATATGTGGTAA , LRG_778:g.156539_156550delinsCATATGTGGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2682_2693delinsCATATGTGGTAA	ENSP00000453958.2:p.Pro894=
ENST00000674301.2:c.2682_2693delinsCATATGTGGTAA	ENSP00000501333.2:p.Pro894=
ENST00000684448.1:n.1356_1367delinsCATATGTGGTAA
ENST00000316623.10:c.2682_2693delinsCATATGTGGTAA MANE Select	ENSP00000325527.5:p.Pro894=
ENST00000316623.9:c.2682_2693delinsCATATGTGGTAA	ENSP00000325527.5:p.Pro894=
ENST00000537463.6:c.637-19600_637-19589delinsCATATGTGGTAA	ENSP00000440294.2:n.637-19600_637-19589delinsCATATGTGGTAA
NM_000138.4:c.2682_2693delinsCATATGTGGTAA , LRG_778t1:c.2682_2693delinsCATATGTGGTAA	NP_000129.3:p.Pro894=
NM_000138.5:c.2682_2693delinsCATATGTGGTAA MANE Select	NP_000129.3:p.Pro894=