Canonical Allele Identifier: CA2175488139

Gene: FBN1

Linked Data

• dbSNP Id: rs2042875538

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412892_48412893insCT , CM000677.2:g.48412892_48412893insCT	GRCh38
NC_000015.9:g.48705089_48705090insCT , CM000677.1:g.48705089_48705090insCT	GRCh37
NC_000015.8:g.46492381_46492382insCT	NCBI36
NG_008805.2:g.237897_237898insGA , LRG_778:g.237897_237898insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-149_*860-148insGA	ENSP00000453958.2:n.*860-149_*860-148insGA
ENST00000674301.2:c.*1565-149_*1565-148insGA	ENSP00000501333.2:n.*1565-149_*1565-148insGA
ENST00000682158.1:n.1433-149_1433-148insGA
ENST00000682170.1:n.2233-149_2233-148insGA
ENST00000682767.1:n.1349-149_1349-148insGA
ENST00000316623.10:c.8052-149_8052-148insGA MANE Select	ENSP00000325527.5:n.8052-149_8052-148insGA
ENST00000674301.1:c.3218-149_3218-148insGA	ENSP00000501333.1:n.3218-149_3218-148insGA
ENST00000316623.9:c.8052-149_8052-148insGA	ENSP00000325527.5:n.8052-149_8052-148insGA
ENST00000559133.5:c.3421-149_3421-148insGA
ENST00000561429.1:n.307-149_307-148insGA
NM_000138.4:c.8052-149_8052-148insGA , LRG_778t1:c.8052-149_8052-148insGA	NP_000129.3:n.8052-149_8052-148insGA
NM_000138.5:c.8052-149_8052-148insGA MANE Select	NP_000129.3:n.8052-149_8052-148insGA