Canonical Allele Identifier: CA2628325387

Gene: FBN1

Linked Data

• gnomAD v4: 15-48412797-GGTGGTACAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412800_48412810del , CM000677.2:g.48412800_48412810del	GRCh38
NC_000015.9:g.48704997_48705007del , CM000677.1:g.48704997_48705007del	GRCh37
NC_000015.8:g.46492289_46492299del	NCBI36
NG_008805.2:g.237981_237991del , LRG_778:g.237981_237991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-65_*860-55del	ENSP00000453958.2:n.*860-65_*860-55del
ENST00000674301.2:c.*1565-65_*1565-55del	ENSP00000501333.2:n.*1565-65_*1565-55del
ENST00000682158.1:n.1433-65_1433-55del
ENST00000682170.1:n.2233-65_2233-55del
ENST00000682767.1:n.1349-65_1349-55del
ENST00000316623.10:c.8052-65_8052-55del MANE Select	ENSP00000325527.5:n.8052-65_8052-55del
ENST00000674301.1:c.3218-65_3218-55del	ENSP00000501333.1:n.3218-65_3218-55del
ENST00000316623.9:c.8052-65_8052-55del	ENSP00000325527.5:n.8052-65_8052-55del
ENST00000559133.5:c.3421-65_3421-55del
ENST00000561429.1:n.307-65_307-55del
NM_000138.4:c.8052-65_8052-55del , LRG_778t1:c.8052-65_8052-55del	NP_000129.3:n.8052-65_8052-55del
NM_000138.5:c.8052-65_8052-55del MANE Select	NP_000129.3:n.8052-65_8052-55del