Canonical Allele Identifier: CA2175526737

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503930_48503932delinsATG , CM000677.2:g.48503930_48503932delinsATG	GRCh38
NC_000015.9:g.48796127_48796129delinsATG , CM000677.1:g.48796127_48796129delinsATG	GRCh37
NC_000015.8:g.46583419_46583421delinsATG	NCBI36
NG_008805.2:g.146857_146859delinsCAT , LRG_778:g.146857_146859delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1968_1970delinsCAT	ENSP00000453958.2:p.His656=
ENST00000674301.2:c.1968_1970delinsCAT	ENSP00000501333.2:p.His656=
ENST00000684448.1:n.642_644delinsCAT
ENST00000316623.10:c.1968_1970delinsCAT MANE Select	ENSP00000325527.5:p.His656=
ENST00000316623.9:c.1968_1970delinsCAT	ENSP00000325527.5:p.His656=
ENST00000537463.6:c.637-29282_637-29280delinsCAT	ENSP00000440294.2:n.637-29282_637-29280delinsCAT
NM_000138.4:c.1968_1970delinsCAT , LRG_778t1:c.1968_1970delinsCAT	NP_000129.3:p.His656=
NM_000138.5:c.1968_1970delinsCAT MANE Select	NP_000129.3:p.His656=