Canonical Allele Identifier: CA2175495749

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474492_48474503delinsTCCTTGATAAGC , CM000677.2:g.48474492_48474503delinsTCCTTGATAAGC	GRCh38
NC_000015.9:g.48766689_48766700delinsTCCTTGATAAGC , CM000677.1:g.48766689_48766700delinsTCCTTGATAAGC	GRCh37
NC_000015.8:g.46553981_46553992delinsTCCTTGATAAGC	NCBI36
NG_008805.2:g.176286_176297delinsGCTTATCAAGGA , LRG_778:g.176286_176297delinsGCTTATCAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4087+25_4087+36delinsGCTTATCAAGGA	ENSP00000453958.2:n.4087+25_4087+36delinsGCTTATCAAGGA
ENST00000674301.2:c.4087+25_4087+36delinsGCTTATCAAGGA	ENSP00000501333.2:n.4087+25_4087+36delinsGCTTATCAAGGA
ENST00000684448.1:n.2761+25_2761+36delinsGCTTATCAAGGA
ENST00000316623.10:c.4087+25_4087+36delinsGCTTATCAAGGA MANE Select	ENSP00000325527.5:n.4087+25_4087+36delinsGCTTATCAAGGA
ENST00000316623.9:c.4087+25_4087+36delinsGCTTATCAAGGA	ENSP00000325527.5:n.4087+25_4087+36delinsGCTTATCAAGGA
ENST00000537463.6:c.759+25_759+36delinsGCTTATCAAGGA	ENSP00000440294.2:n.759+25_759+36delinsGCTTATCAAGGA
NM_000138.4:c.4087+25_4087+36delinsGCTTATCAAGGA , LRG_778t1:c.4087+25_4087+36delinsGCTTATCAAGGA	NP_000129.3:n.4087+25_4087+36delinsGCTTATCAAGGA
NM_000138.5:c.4087+25_4087+36delinsGCTTATCAAGGA MANE Select	NP_000129.3:n.4087+25_4087+36delinsGCTTATCAAGGA