Canonical Allele Identifier: CA658798374

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527161
• ClinVar RCV Id: RCV000631938
• dbSNP Id: rs1555398832
• MyVariant Identifiers: chr15:g.48782237_48782243del (hg19) ; chr15:g.48490040_48490046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490040_48490046del , CM000677.2:g.48490040_48490046del	GRCh38
NC_000015.9:g.48782237_48782243del , CM000677.1:g.48782237_48782243del	GRCh37
NC_000015.8:g.46569529_46569535del	NCBI36
NG_008805.2:g.160743_160749del , LRG_778:g.160743_160749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2887_2893del	ENSP00000453958.2:p.Glu963ArgfsTer?
ENST00000674301.2:c.2887_2893del	ENSP00000501333.2:p.Glu963ArgfsTer?
ENST00000684448.1:n.1561_1567del
ENST00000316623.10:c.2887_2893del MANE Select	ENSP00000325527.5:p.Glu963ArgfsTer?
ENST00000316623.9:c.2887_2893del	ENSP00000325527.5:p.Glu963ArgfsTer?
ENST00000537463.6:c.637-15396_637-15390del	ENSP00000440294.2:n.637-15396_637-15390del
NM_000138.4:c.2887_2893del , LRG_778t1:c.2887_2893del	NP_000129.3:p.Glu963ArgfsTer?
NM_000138.5:c.2887_2893del MANE Select	NP_000129.3:p.Glu963ArgfsTer?