Canonical Allele Identifier: CA2175515156

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487478_48487498delinsTCTCCTCCACCAGACCAAGCA , CM000677.2:g.48487478_48487498delinsTCTCCTCCACCAGACCAAGCA	GRCh38
NC_000015.9:g.48779675_48779695delinsTCTCCTCCACCAGACCAAGCA , CM000677.1:g.48779675_48779695delinsTCTCCTCCACCAGACCAAGCA	GRCh37
NC_000015.8:g.46566967_46566987delinsTCTCCTCCACCAGACCAAGCA	NCBI36
NG_008805.2:g.163291_163311delinsTGCTTGGTCTGGTGGAGGAGA , LRG_778:g.163291_163311delinsTGCTTGGTCTGGTGGAGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA	ENSP00000453958.2:n.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAG...
ENST00000674301.2:c.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA	ENSP00000501333.2:n.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAG...
ENST00000684448.1:n.2012-61_2012-41delinsTGCTTGGTCTGGTGGAGGAGA
ENST00000316623.10:c.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA MANE Select	ENSP00000325527.5:n.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAG...
ENST00000316623.9:c.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA	ENSP00000325527.5:n.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAG...
ENST00000537463.6:c.637-12848_637-12828delinsTGCTTGGTCTGGTGGAGGAGA	ENSP00000440294.2:n.637-12848_637-12828delinsTGCTTGGTCTGGTGGA...
NM_000138.4:c.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA , LRG_778t1:c.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA	NP_000129.3:n.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA
NM_000138.5:c.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA MANE Select	NP_000129.3:n.3338-61_3338-41delinsTGCTTGGTCTGGTGGAGGAGA