Canonical Allele Identifier: CA048978

Gene: FBN1

Linked Data

• dbSNP Id: rs757393059
• ExAC: 15:48784622 AATT / A
• gnomAD v2: 15-48784622-AATT-A
• gnomAD v3: 15-48492425-AATT-A
• gnomAD v4: 15-48492425-AATT-A
• MyVariant Identifiers: chr15:g.48784623_48784625del (hg19) ; chr15:g.48492426_48492428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492433_48492435del , CM000677.2:g.48492433_48492435del	GRCh38
NC_000015.9:g.48784630_48784632del , CM000677.1:g.48784630_48784632del	GRCh37
NC_000015.8:g.46571922_46571924del	NCBI36
NG_008805.2:g.158361_158363del , LRG_778:g.158361_158363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+33_2854+35del	ENSP00000453958.2:n.2854+33_2854+35del
ENST00000674301.2:c.2854+33_2854+35del	ENSP00000501333.2:n.2854+33_2854+35del
ENST00000684448.1:n.1528+33_1528+35del
ENST00000316623.10:c.2854+33_2854+35del MANE Select	ENSP00000325527.5:n.2854+33_2854+35del
ENST00000316623.9:c.2854+33_2854+35del	ENSP00000325527.5:n.2854+33_2854+35del
ENST00000537463.6:c.637-17778_637-17776del	ENSP00000440294.2:n.637-17778_637-17776del
NM_000138.4:c.2854+33_2854+35del , LRG_778t1:c.2854+33_2854+35del	NP_000129.3:n.2854+33_2854+35del
NM_000138.5:c.2854+33_2854+35del MANE Select	NP_000129.3:n.2854+33_2854+35del