Canonical Allele Identifier: CA10587829

Gene: FBN1

Linked Data

• ClinVar Variation Id: 264077
• ClinVar RCV Id: RCV000589783 ; RCV002310977
• dbSNP Id: rs886039035
• MyVariant Identifiers: chr15:g.48760629del (hg19) ; chr15:g.48468432del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468434del , CM000677.2:g.48468434del	GRCh38
NC_000015.9:g.48760631del , CM000677.1:g.48760631del	GRCh37
NC_000015.8:g.46547923del	NCBI36
NG_008805.2:g.182357del , LRG_778:g.182357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4562del	ENSP00000453958.2:p.Pro1521GlnfsTer?
ENST00000674301.2:c.4562del	ENSP00000501333.2:p.Pro1521GlnfsTer?
ENST00000684448.1:n.3236del
ENST00000316623.10:c.4562del MANE Select	ENSP00000325527.5:p.Pro1521GlnfsTer?
ENST00000316623.9:c.4562del	ENSP00000325527.5:p.Pro1521GlnfsTer?
ENST00000537463.6:c.*325del	ENSP00000440294.2:n.*325del
NM_000138.4:c.4562del , LRG_778t1:c.4562del	NP_000129.3:p.Pro1521GlnfsTer?
NM_000138.5:c.4562del MANE Select	NP_000129.3:p.Pro1521GlnfsTer?