Canonical Allele Identifier: CA2804072467

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485543_48485544del , CM000677.2:g.48485543_48485544del	GRCh38
NC_000015.9:g.48777740_48777741del , CM000677.1:g.48777740_48777741del	GRCh37
NC_000015.8:g.46565032_46565033del	NCBI36
NG_008805.2:g.165246_165247del , LRG_778:g.165246_165247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3590-47_3590-46del	ENSP00000453958.2:n.3590-47_3590-46del
ENST00000674301.2:c.3590-47_3590-46del	ENSP00000501333.2:n.3590-47_3590-46del
ENST00000684448.1:n.2264-47_2264-46del
ENST00000316623.10:c.3590-47_3590-46del MANE Select	ENSP00000325527.5:n.3590-47_3590-46del
ENST00000316623.9:c.3590-47_3590-46del	ENSP00000325527.5:n.3590-47_3590-46del
ENST00000537463.6:c.637-10893_637-10892del	ENSP00000440294.2:n.637-10893_637-10892del
NM_000138.4:c.3590-47_3590-46del , LRG_778t1:c.3590-47_3590-46del	NP_000129.3:n.3590-47_3590-46del
NM_000138.5:c.3590-47_3590-46del MANE Select	NP_000129.3:n.3590-47_3590-46del