Canonical Allele Identifier: CA2741427210

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520857_48520858insCTAACAAATGAGGAGAGAGGCCTTCTGCACTCATAGATTTATTATGCTTGG , CM000677.2:g.48520857_48520858insCTAACAAATGAGGAGAGAGGCCTTCTGCACTCATAGATTTATTATGCTTGG	GRCh38
NC_000015.9:g.48813054_48813055insCTAACAAATGAGGAGAGAGGCCTTCTGCACTCATAGATTTATTATGCTTGG , CM000677.1:g.48813054_48813055insCTAACAAATGAGGAGAGAGGCCTTCTGCACTCATAGATTTATTATGCTTGG	GRCh37
NC_000015.8:g.46600346_46600347insCTAACAAATGAGGAGAGAGGCCTTCTGCACTCATAGATTTATTATGCTTGG	NCBI36
NG_008805.2:g.129931_129932insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG , LRG_778:g.129931_129932insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG	ENSP00000453958.2:n.989-41_989-40insCCAAGCATAATAAATCTATGAGTGC...
ENST00000674301.2:c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG	ENSP00000501333.2:n.989-41_989-40insCCAAGCATAATAAATCTATGAGTGC...
ENST00000316623.10:c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG MANE Select	ENSP00000325527.5:n.989-41_989-40insCCAAGCATAATAAATCTATGAGTGC...
ENST00000316623.9:c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG	ENSP00000325527.5:n.989-41_989-40insCCAAGCATAATAAATCTATGAGTGC...
ENST00000537463.6:c.636+16853_636+16854insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG	ENSP00000440294.2:n.636+16853_636+16854insCCAAGCATAATAAATCTAT...
NM_000138.4:c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG , LRG_778t1:c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG	NP_000129.3:n.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGG...
NM_000138.5:c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG MANE Select	NP_000129.3:n.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGG...