Canonical Allele Identifier: CA2695220638

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474556_48474561del , CM000677.2:g.48474556_48474561del	GRCh38
NC_000015.9:g.48766753_48766758del , CM000677.1:g.48766753_48766758del	GRCh37
NC_000015.8:g.46554045_46554050del	NCBI36
NG_008805.2:g.176228_176233del , LRG_778:g.176228_176233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4054_4059del	ENSP00000453958.2:p.Pro1352_Gly1353del
ENST00000674301.2:c.4054_4059del	ENSP00000501333.2:p.Pro1352_Gly1353del
ENST00000684448.1:n.2728_2733del
ENST00000316623.10:c.4054_4059del MANE Select	ENSP00000325527.5:p.Pro1352_Gly1353del
ENST00000316623.9:c.4054_4059del	ENSP00000325527.5:p.Pro1352_Gly1353del
ENST00000537463.6:c.726_731del	ENSP00000440294.2:p.Pro243_Gly244del
NM_000138.4:c.4054_4059del , LRG_778t1:c.4054_4059del	NP_000129.3:p.Pro1352_Gly1353del
NM_000138.5:c.4054_4059del MANE Select	NP_000129.3:p.Pro1352_Gly1353del