Canonical Allele Identifier: CA658824928

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549366
• ClinVar RCV Id: RCV000663900 ; RCV001381229
• dbSNP Id: rs1555394777
• MyVariant Identifiers: chr15:g.48722965_48722966del (hg19) ; chr15:g.48430768_48430769del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430769_48430770del , CM000677.2:g.48430769_48430770del	GRCh38
NC_000015.9:g.48722966_48722967del , CM000677.1:g.48722966_48722967del	GRCh37
NC_000015.8:g.46510258_46510259del	NCBI36
NG_008805.2:g.220020_220021del , LRG_778:g.220020_220021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6773_6774del	ENSP00000453958.2:p.Cys2258TyrfsTer2
ENST00000674301.2:c.*224_*225del	ENSP00000501333.2:n.*224_*225del
ENST00000682170.1:n.382_383del
ENST00000316623.10:c.6773_6774del MANE Select	ENSP00000325527.5:p.Cys2258TyrfsTer2
ENST00000674301.1:c.1877_1878del	ENSP00000501333.1:n.1877_1878del
ENST00000316623.9:c.6773_6774del	ENSP00000325527.5:p.Cys2258TyrfsTer2
ENST00000537463.6:c.*2536_*2537del	ENSP00000440294.2:n.*2536_*2537del
ENST00000559133.5:c.2080_2081del
ENST00000560720.1:n.60_61del
NM_000138.4:c.6773_6774del , LRG_778t1:c.6773_6774del	NP_000129.3:p.Cys2258TyrfsTer2
NM_000138.5:c.6773_6774del MANE Select	NP_000129.3:p.Cys2258TyrfsTer2