Canonical Allele Identifier: CA713391631

Gene: FBN1

Linked Data

• dbSNP Id: rs1417220414
• MyVariant Identifiers: chr15:g.48720415_48720416del (hg19) ; chr15:g.48428218_48428219del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428220_48428221del , CM000677.2:g.48428220_48428221del	GRCh38
NC_000015.9:g.48720417_48720418del , CM000677.1:g.48720417_48720418del	GRCh37
NC_000015.8:g.46507709_46507710del	NCBI36
NG_008805.2:g.222570_222571del , LRG_778:g.222570_222571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+127_6997+128del	ENSP00000453958.2:n.6997+127_6997+128del
ENST00000674301.2:c.*448+127_*448+128del	ENSP00000501333.2:n.*448+127_*448+128del
ENST00000682170.1:n.733_734del
ENST00000682767.1:n.232+127_232+128del
ENST00000316623.10:c.6997+127_6997+128del MANE Select	ENSP00000325527.5:n.6997+127_6997+128del
ENST00000674301.1:c.2101+127_2101+128del	ENSP00000501333.1:n.2101+127_2101+128del
ENST00000316623.9:c.6997+127_6997+128del	ENSP00000325527.5:n.6997+127_6997+128del
ENST00000559133.5:c.2304+127_2304+128del
ENST00000560720.1:n.411_412del
NM_000138.4:c.6997+127_6997+128del , LRG_778t1:c.6997+127_6997+128del	NP_000129.3:n.6997+127_6997+128del
NM_000138.5:c.6997+127_6997+128del MANE Select	NP_000129.3:n.6997+127_6997+128del