Canonical Allele Identifier: CA013372

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200155
• ClinVar RCV Id: RCV000181658
• dbSNP Id: rs794728303
• MyVariant Identifiers: chr15:g.48786428del (hg19) ; chr15:g.48494231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494231del , CM000677.2:g.48494231del	GRCh38
NC_000015.9:g.48786428del , CM000677.1:g.48786428del	GRCh37
NC_000015.8:g.46573720del	NCBI36
NG_008805.2:g.156558del , LRG_778:g.156558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2701del	ENSP00000453958.2:p.Ser901GlnfsTer11
ENST00000674301.2:c.2701del	ENSP00000501333.2:p.Ser901GlnfsTer11
ENST00000684448.1:n.1375del
ENST00000316623.10:c.2701del MANE Select	ENSP00000325527.5:p.Ser901GlnfsTer11
ENST00000316623.9:c.2701del	ENSP00000325527.5:p.Ser901GlnfsTer11
ENST00000537463.6:c.637-19581del	ENSP00000440294.2:n.637-19581del
NM_000138.4:c.2701del , LRG_778t1:c.2701del	NP_000129.3:p.Ser901GlnfsTer11
NM_000138.5:c.2701del MANE Select	NP_000129.3:p.Ser901GlnfsTer11