Canonical Allele Identifier: CA2175488144

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412902_48412906delinsCTGTT , CM000677.2:g.48412902_48412906delinsCTGTT	GRCh38
NC_000015.9:g.48705099_48705103delinsCTGTT , CM000677.1:g.48705099_48705103delinsCTGTT	GRCh37
NC_000015.8:g.46492391_46492395delinsCTGTT	NCBI36
NG_008805.2:g.237883_237887delinsAACAG , LRG_778:g.237883_237887delinsAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-163_*860-159delinsAACAG	ENSP00000453958.2:n.*860-163_*860-159delinsAACAG
ENST00000674301.2:c.*1565-163_*1565-159delinsAACAG	ENSP00000501333.2:n.*1565-163_*1565-159delinsAACAG
ENST00000682158.1:n.1433-163_1433-159delinsAACAG
ENST00000682170.1:n.2233-163_2233-159delinsAACAG
ENST00000682767.1:n.1349-163_1349-159delinsAACAG
ENST00000316623.10:c.8052-163_8052-159delinsAACAG MANE Select	ENSP00000325527.5:n.8052-163_8052-159delinsAACAG
ENST00000674301.1:c.3218-163_3218-159delinsAACAG	ENSP00000501333.1:n.3218-163_3218-159delinsAACAG
ENST00000316623.9:c.8052-163_8052-159delinsAACAG	ENSP00000325527.5:n.8052-163_8052-159delinsAACAG
ENST00000559133.5:c.3421-163_3421-159delinsAACAG
ENST00000561429.1:n.307-163_307-159delinsAACAG
NM_000138.4:c.8052-163_8052-159delinsAACAG , LRG_778t1:c.8052-163_8052-159delinsAACAG	NP_000129.3:n.8052-163_8052-159delinsAACAG
NM_000138.5:c.8052-163_8052-159delinsAACAG MANE Select	NP_000129.3:n.8052-163_8052-159delinsAACAG