Canonical Allele Identifier: CA2563036979

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48497320_48497321insTAGTAACAAA , CM000677.2:g.48497320_48497321insTAGTAACAAA	GRCh38
NC_000015.9:g.48789517_48789518insTAGTAACAAA , CM000677.1:g.48789517_48789518insTAGTAACAAA	GRCh37
NC_000015.8:g.46576809_46576810insTAGTAACAAA	NCBI36
NG_008805.2:g.153468_153469insTTTGTTACTA , LRG_778:g.153468_153469insTTTGTTACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2238_2239insTTTGTTACTA	ENSP00000453958.2:p.Lys747PhefsTer12
ENST00000674301.2:c.2238_2239insTTTGTTACTA	ENSP00000501333.2:p.Lys747PhefsTer12
ENST00000684448.1:n.912_913insTTTGTTACTA
ENST00000316623.10:c.2238_2239insTTTGTTACTA MANE Select	ENSP00000325527.5:p.Lys747PhefsTer12
ENST00000316623.9:c.2238_2239insTTTGTTACTA	ENSP00000325527.5:p.Lys747PhefsTer12
ENST00000537463.6:c.637-22671_637-22670insTTTGTTACTA	ENSP00000440294.2:n.637-22671_637-22670insTTTGTTACTA
NM_000138.4:c.2238_2239insTTTGTTACTA , LRG_778t1:c.2238_2239insTTTGTTACTA	NP_000129.3:p.Lys747PhefsTer12
NM_000138.5:c.2238_2239insTTTGTTACTA MANE Select	NP_000129.3:p.Lys747PhefsTer12