Canonical Allele Identifier: CA2175513390

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445184_48445206delinsGTATATATATATACATATATATA , CM000677.2:g.48445184_48445206delinsGTATATATATATACATATATATA	GRCh38
NC_000015.9:g.48737381_48737403delinsGTATATATATATACATATATATA , CM000677.1:g.48737381_48737403delinsGTATATATATATACATATATATA	GRCh37
NC_000015.8:g.46524673_46524695delinsGTATATATATATACATATATATA	NCBI36
NG_008805.2:g.205583_205605delinsTATATATATGTATATATATATAC , LRG_778:g.205583_205605delinsTATATATATGTATATATATATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+170_5917+192delinsTATATATATGTATATATATATAC	ENSP00000453958.2:n.5917+170_5917+192delinsTATATATATGTATATATA...
ENST00000674301.2:c.5917+170_5917+192delinsTATATATATGTATATATATATAC	ENSP00000501333.2:n.5917+170_5917+192delinsTATATATATGTATATATA...
ENST00000684448.1:n.4591+170_4591+192delinsTATATATATGTATATATATATAC
ENST00000316623.10:c.5917+170_5917+192delinsTATATATATGTATATATATATAC MANE Select	ENSP00000325527.5:n.5917+170_5917+192delinsTATATATATGTATATATA...
ENST00000674301.1:c.916+170_916+192delinsTATATATATGTATATATATATAC	ENSP00000501333.1:n.916+170_916+192delinsTATATATATGTATATATATA...
ENST00000316623.9:c.5917+170_5917+192delinsTATATATATGTATATATATATAC	ENSP00000325527.5:n.5917+170_5917+192delinsTATATATATGTATATATA...
ENST00000537463.6:c.*1680+170_*1680+192delinsTATATATATGTATATATATATAC	ENSP00000440294.2:n.*1680+170_*1680+192delinsTATATATATGTATATA...
ENST00000559133.5:c.1224+170_1224+192delinsTATATATATGTATATATATATAC
ENST00000560820.1:n.37+170_37+192delinsTATATATATGTATATATATATAC
NM_000138.4:c.5917+170_5917+192delinsTATATATATGTATATATATATAC , LRG_778t1:c.5917+170_5917+192delinsTATATATATGTATATATATATAC	NP_000129.3:n.5917+170_5917+192delinsTATATATATGTATATATATATAC
NM_000138.5:c.5917+170_5917+192delinsTATATATATGTATATATATATAC MANE Select	NP_000129.3:n.5917+170_5917+192delinsTATATATATGTATATATATATAC