Canonical Allele Identifier: CA656135304

Gene: FBN1

Linked Data

• COSMIC: COSN22895159

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412918_48412933del , CM000677.2:g.48412918_48412933del	GRCh38
NC_000015.9:g.48705115_48705130del , CM000677.1:g.48705115_48705130del	GRCh37
NC_000015.8:g.46492407_46492422del	NCBI36
NG_008805.2:g.237859_237874del , LRG_778:g.237859_237874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-187_*860-172del	ENSP00000453958.2:n.*860-187_*860-172del
ENST00000674301.2:c.*1565-187_*1565-172del	ENSP00000501333.2:n.*1565-187_*1565-172del
ENST00000682158.1:n.1433-187_1433-172del
ENST00000682170.1:n.2233-187_2233-172del
ENST00000682767.1:n.1349-187_1349-172del
ENST00000316623.10:c.8052-187_8052-172del MANE Select	ENSP00000325527.5:n.8052-187_8052-172del
ENST00000674301.1:c.3218-187_3218-172del	ENSP00000501333.1:n.3218-187_3218-172del
ENST00000316623.9:c.8052-187_8052-172del	ENSP00000325527.5:n.8052-187_8052-172del
ENST00000559133.5:c.3421-187_3421-172del
ENST00000561429.1:n.307-187_307-172del
NM_000138.4:c.8052-187_8052-172del , LRG_778t1:c.8052-187_8052-172del	NP_000129.3:n.8052-187_8052-172del
NM_000138.5:c.8052-187_8052-172del MANE Select	NP_000129.3:n.8052-187_8052-172del