Canonical Allele Identifier: CA2824998302

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503938_48503939dup , CM000677.2:g.48503938_48503939dup	GRCh38
NC_000015.9:g.48796135_48796136dup , CM000677.1:g.48796135_48796136dup	GRCh37
NC_000015.8:g.46583427_46583428dup	NCBI36
NG_008805.2:g.146857_146858dup , LRG_778:g.146857_146858dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1968_1969dup	ENSP00000453958.2:p.Met657ThrfsTer?
ENST00000674301.2:c.1968_1969dup	ENSP00000501333.2:p.Met657ThrfsTer?
ENST00000684448.1:n.642_643dup
ENST00000316623.10:c.1968_1969dup MANE Select	ENSP00000325527.5:p.Met657ThrfsTer?
ENST00000316623.9:c.1968_1969dup	ENSP00000325527.5:p.Met657ThrfsTer?
ENST00000537463.6:c.637-29282_637-29281dup	ENSP00000440294.2:n.637-29282_637-29281dup
NM_000138.4:c.1968_1969dup , LRG_778t1:c.1968_1969dup	NP_000129.3:p.Met657ThrfsTer?
NM_000138.5:c.1968_1969dup MANE Select	NP_000129.3:p.Met657ThrfsTer?