Canonical Allele Identifier: CA618009157

Gene: FBN1

Linked Data

• dbSNP Id: rs1158681567
• gnomAD v2: 15-48703145-AT-A
• gnomAD v3: 15-48410948-AT-A
• gnomAD v4: 15-48410948-AT-A
• MyVariant Identifiers: chr15:g.48703146del (hg19) ; chr15:g.48410949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410949del , CM000677.2:g.48410949del	GRCh38
NC_000015.9:g.48703146del , CM000677.1:g.48703146del	GRCh37
NC_000015.8:g.46490438del	NCBI36
NG_008805.2:g.239840del , LRG_778:g.239840del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1465del	ENSP00000453958.2:n.*1465del
ENST00000682158.1:n.2038del
ENST00000682170.1:n.2838del
ENST00000682767.1:n.1954del
ENST00000316623.10:c.*41del MANE Select	ENSP00000325527.5:n.*41del
ENST00000316623.9:c.*41del	ENSP00000325527.5:n.*41del
ENST00000559133.5:c.4026del
NM_000138.4:c.*41del , LRG_778t1:c.*41del	NP_000129.3:n.*41del
NM_000138.5:c.*41del MANE Select	NP_000129.3:n.*41del