Canonical Allele Identifier: CA2575716976

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430623_48430624del , CM000677.2:g.48430623_48430624del	GRCh38
NC_000015.9:g.48722820_48722821del , CM000677.1:g.48722820_48722821del	GRCh37
NC_000015.8:g.46510112_46510113del	NCBI36
NG_008805.2:g.220165_220166del , LRG_778:g.220165_220166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6871+47_6871+48del	ENSP00000453958.2:n.6871+47_6871+48del
ENST00000674301.2:c.*322+47_*322+48del	ENSP00000501333.2:n.*322+47_*322+48del
ENST00000682170.1:n.480+47_480+48del
ENST00000316623.10:c.6871+47_6871+48del MANE Select	ENSP00000325527.5:n.6871+47_6871+48del
ENST00000674301.1:c.1975+47_1975+48del	ENSP00000501333.1:n.1975+47_1975+48del
ENST00000316623.9:c.6871+47_6871+48del	ENSP00000325527.5:n.6871+47_6871+48del
ENST00000559133.5:c.2178+47_2178+48del
ENST00000560720.1:n.158+47_158+48del
NM_000138.4:c.6871+47_6871+48del , LRG_778t1:c.6871+47_6871+48del	NP_000129.3:n.6871+47_6871+48del
NM_000138.5:c.6871+47_6871+48del MANE Select	NP_000129.3:n.6871+47_6871+48del