Canonical Allele Identifier: CA2175502248

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437015_48437045delinsAACCATCTGTATTGATGCACTGTCCATGTTT , CM000677.2:g.48437015_48437045delinsAACCATCTGTATTGATGCACTGTCCATGTTT	GRCh38
NC_000015.9:g.48729212_48729242delinsAACCATCTGTATTGATGCACTGTCCATGTTT , CM000677.1:g.48729212_48729242delinsAACCATCTGTATTGATGCACTGTCCATGTTT	GRCh37
NC_000015.8:g.46516504_46516534delinsAACCATCTGTATTGATGCACTGTCCATGTTT	NCBI36
NG_008805.2:g.213744_213774delinsAAACATGGACAGTGCATCAATACAGATGGTT , LRG_778:g.213744_213774delinsAAACATGGACAGTGCATCAATACAGATGGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT	ENSP00000453958.2:p.Lys2138=
ENST00000674301.2:c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT	ENSP00000501333.2:p.Lys2138=
ENST00000682170.1:n.21_51delinsAAACATGGACAGTGCATCAATACAGATGGTT
ENST00000316623.10:c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT MANE Select	ENSP00000325527.5:p.Lys2138=
ENST00000674301.1:c.1411_1441delinsAAACATGGACAGTGCATCAATACAGATGGTT	ENSP00000501333.1:p.Lys471=
ENST00000316623.9:c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT	ENSP00000325527.5:p.Lys2138=
ENST00000537463.6:c.*2175_*2205delinsAAACATGGACAGTGCATCAATACAGATGGTT	ENSP00000440294.2:n.*2175_*2205delinsAAAC...
ENST00000559133.5:c.1719_1749delinsAAACATGGACAGTGCATCAATACAGATGGTT
NM_000138.4:c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT , LRG_778t1:c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT	NP_000129.3:p.Lys2138=
NM_000138.5:c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT MANE Select	NP_000129.3:p.Lys2138=