Canonical Allele Identifier: CA2695220278

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448765_48448766insGG , CM000677.2:g.48448765_48448766insGG	GRCh38
NC_000015.9:g.48740962_48740963insGG , CM000677.1:g.48740962_48740963insGG	GRCh37
NC_000015.8:g.46528254_46528255insGG	NCBI36
NG_008805.2:g.202023_202024insCC , LRG_778:g.202023_202024insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5671+2_5671+3insCC	ENSP00000453958.2:n.5671+2_5671+3insCC
ENST00000674301.2:c.5671+2_5671+3insCC	ENSP00000501333.2:n.5671+2_5671+3insCC
ENST00000684448.1:n.4345+2_4345+3insCC
ENST00000316623.10:c.5671+2_5671+3insCC MANE Select	ENSP00000325527.5:n.5671+2_5671+3insCC
ENST00000674301.1:c.670+2_670+3insCC	ENSP00000501333.1:n.670+2_670+3insCC
ENST00000316623.9:c.5671+2_5671+3insCC	ENSP00000325527.5:n.5671+2_5671+3insCC
ENST00000537463.6:c.*1434+2_*1434+3insCC	ENSP00000440294.2:n.*1434+2_*1434+3insCC
ENST00000559133.5:c.978+2_978+3insCC
NM_000138.4:c.5671+2_5671+3insCC , LRG_778t1:c.5671+2_5671+3insCC	NP_000129.3:n.5671+2_5671+3insCC
NM_000138.5:c.5671+2_5671+3insCC MANE Select	NP_000129.3:n.5671+2_5671+3insCC