Canonical Allele Identifier: CA618009215

Gene: FBN1

Linked Data

• dbSNP Id: rs1566891732
• gnomAD v2: 15-48713905-AAG-A
• gnomAD v4: 15-48421708-AAG-A
• MyVariant Identifiers: chr15:g.48713906_48713907del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421711_48421712del , CM000677.2:g.48421711_48421712del	GRCh38
NC_000015.9:g.48713908_48713909del , CM000677.1:g.48713908_48713909del	GRCh37
NC_000015.8:g.46501200_46501201del	NCBI36
NG_008805.2:g.229079_229080del , LRG_778:g.229079_229080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-24_*379-23del	ENSP00000453958.2:n.*379-24_*379-23del
ENST00000674301.2:c.*1084-24_*1084-23del	ENSP00000501333.2:n.*1084-24_*1084-23del
ENST00000682170.1:n.1752-24_1752-23del
ENST00000682767.1:n.868-24_868-23del
ENST00000316623.10:c.7571-24_7571-23del MANE Select	ENSP00000325527.5:n.7571-24_7571-23del
ENST00000674301.1:c.2737-24_2737-23del	ENSP00000501333.1:n.2737-24_2737-23del
ENST00000316623.9:c.7571-24_7571-23del	ENSP00000325527.5:n.7571-24_7571-23del
ENST00000559133.5:c.2940-24_2940-23del
NM_000138.4:c.7571-24_7571-23del , LRG_778t1:c.7571-24_7571-23del	NP_000129.3:n.7571-24_7571-23del
NM_000138.5:c.7571-24_7571-23del MANE Select	NP_000129.3:n.7571-24_7571-23del