Canonical Allele Identifier: CA658824454

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549114
• ClinVar RCV Id: RCV000663582
• dbSNP Id: rs1555398981
• MyVariant Identifiers: chr15:g.48784702_48784704del (hg19) ; chr15:g.48492505_48492507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492505_48492507del , CM000677.2:g.48492505_48492507del	GRCh38
NC_000015.9:g.48784702_48784704del , CM000677.1:g.48784702_48784704del	GRCh37
NC_000015.8:g.46571994_46571996del	NCBI36
NG_008805.2:g.158282_158284del , LRG_778:g.158282_158284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2808_2810del	ENSP00000453958.2:p.Gln936_Cys937delinsHis
ENST00000674301.2:c.2808_2810del	ENSP00000501333.2:p.Gln936_Cys937delinsHis
ENST00000684448.1:n.1482_1484del
ENST00000316623.10:c.2808_2810del MANE Select	ENSP00000325527.5:p.Gln936_Cys937delinsHis
ENST00000316623.9:c.2808_2810del	ENSP00000325527.5:p.Gln936_Cys937delinsHis
ENST00000537463.6:c.637-17857_637-17855del	ENSP00000440294.2:n.637-17857_637-17855del
NM_000138.4:c.2808_2810del , LRG_778t1:c.2808_2810del	NP_000129.3:p.Gln936_Cys937delinsHis
NM_000138.5:c.2808_2810del MANE Select	NP_000129.3:p.Gln936_Cys937delinsHis