Canonical Allele Identifier: CA617838067

Gene: FBN1

Linked Data

• dbSNP Id: rs1200747204
• gnomAD v2: 15-48789428-AGG-A
• MyVariant Identifiers: chr15:g.48789429_48789430del (hg19) ; chr15:g.48497232_48497233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48497232_48497233del , CM000677.2:g.48497232_48497233del	GRCh38
NC_000015.9:g.48789429_48789430del , CM000677.1:g.48789429_48789430del	GRCh37
NC_000015.8:g.46576721_46576722del	NCBI36
NG_008805.2:g.153556_153557del , LRG_778:g.153556_153557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2293+33_2293+34del	ENSP00000453958.2:n.2293+33_2293+34del
ENST00000674301.2:c.2293+33_2293+34del	ENSP00000501333.2:n.2293+33_2293+34del
ENST00000684448.1:n.967+33_967+34del
ENST00000316623.10:c.2293+33_2293+34del MANE Select	ENSP00000325527.5:n.2293+33_2293+34del
ENST00000316623.9:c.2293+33_2293+34del	ENSP00000325527.5:n.2293+33_2293+34del
ENST00000537463.6:c.637-22583_637-22582del	ENSP00000440294.2:n.637-22583_637-22582del
NM_000138.4:c.2293+33_2293+34del , LRG_778t1:c.2293+33_2293+34del	NP_000129.3:n.2293+33_2293+34del
NM_000138.5:c.2293+33_2293+34del MANE Select	NP_000129.3:n.2293+33_2293+34del