Canonical Allele Identifier: CA713403317

Gene: FBN1

Linked Data

• dbSNP Id: rs1462671914
• gnomAD v3: 15-48444983-GA-G
• gnomAD v4: 15-48444983-GA-G
• MyVariant Identifiers: chr15:g.48737181del (hg19) ; chr15:g.48444984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444988del , CM000677.2:g.48444988del	GRCh38
NC_000015.9:g.48737185del , CM000677.1:g.48737185del	GRCh37
NC_000015.8:g.46524477del	NCBI36
NG_008805.2:g.205805del , LRG_778:g.205805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5918-324del	ENSP00000453958.2:n.5918-324del
ENST00000674301.2:c.5918-324del	ENSP00000501333.2:n.5918-324del
ENST00000684448.1:n.4592-324del
ENST00000316623.10:c.5918-324del MANE Select	ENSP00000325527.5:n.5918-324del
ENST00000674301.1:c.917-324del	ENSP00000501333.1:n.917-324del
ENST00000316623.9:c.5918-324del	ENSP00000325527.5:n.5918-324del
ENST00000537463.6:c.*1681-324del	ENSP00000440294.2:n.*1681-324del
ENST00000559133.5:c.1225-324del
ENST00000560820.1:n.38-324del
NM_000138.4:c.5918-324del , LRG_778t1:c.5918-324del	NP_000129.3:n.5918-324del
NM_000138.5:c.5918-324del MANE Select	NP_000129.3:n.5918-324del