Canonical Allele Identifier: CA713391551

Gene: FBN1

Linked Data

• dbSNP Id: rs1428735256
• MyVariant Identifiers: chr15:g.48720246_48720249del (hg19) ; chr15:g.48428049_48428052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428054_48428057del , CM000677.2:g.48428054_48428057del	GRCh38
NC_000015.9:g.48720251_48720254del , CM000677.1:g.48720251_48720254del	GRCh37
NC_000015.8:g.46507543_46507546del	NCBI36
NG_008805.2:g.222737_222740del , LRG_778:g.222737_222740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-109_6998-106del	ENSP00000453958.2:n.6998-109_6998-106del
ENST00000674301.2:c.*449-109_*449-106del	ENSP00000501333.2:n.*449-109_*449-106del
ENST00000682170.1:n.900_903del
ENST00000682767.1:n.233-109_233-106del
ENST00000316623.10:c.6998-279_6998-276del MANE Select	ENSP00000325527.5:n.6998-279_6998-276del
ENST00000674301.1:c.2102-109_2102-106del	ENSP00000501333.1:n.2102-109_2102-106del
ENST00000316623.9:c.6998-279_6998-276del	ENSP00000325527.5:n.6998-279_6998-276del
ENST00000559133.5:c.2305-109_2305-106del
ENST00000560720.1:n.578_581del
NM_000138.4:c.6998-279_6998-276del , LRG_778t1:c.6998-279_6998-276del	NP_000129.3:n.6998-279_6998-276del
NM_000138.5:c.6998-279_6998-276del MANE Select	NP_000129.3:n.6998-279_6998-276del