Canonical Allele Identifier: CA2175537689

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520773_48520809delinsAGCGCCCGTTTGTCAGAGCTGTGTAACAGTATCCTGG , CM000677.2:g.48520773_48520809delinsAGCGCCCGTTTGTCAGAGCTGTGTAACAGTATCCTGG	GRCh38
NC_000015.9:g.48812970_48813006delinsAGCGCCCGTTTGTCAGAGCTGTGTAACAGTATCCTGG , CM000677.1:g.48812970_48813006delinsAGCGCCCGTTTGTCAGAGCTGTGTAACAGTATCCTGG	GRCh37
NC_000015.8:g.46600262_46600298delinsAGCGCCCGTTTGTCAGAGCTGTGTAACAGTATCCTGG	NCBI36
NG_008805.2:g.129980_130016delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT , LRG_778:g.129980_130016delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT	ENSP00000453958.2:p.Pro333=
ENST00000674301.2:c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT	ENSP00000501333.2:p.Pro333=
ENST00000316623.10:c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT MANE Select	ENSP00000325527.5:p.Pro333=
ENST00000316623.9:c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT	ENSP00000325527.5:p.Pro333=
ENST00000537463.6:c.636+16902_636+16938delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT	ENSP00000440294.2:n.636+16902_636+16938delinsCCAGGATACTGTTACA...
NM_000138.4:c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT , LRG_778t1:c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT	NP_000129.3:p.Pro333=
NM_000138.5:c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT MANE Select	NP_000129.3:p.Pro333=