Canonical Allele Identifier: CA916082428

Gene: FBN1

Linked Data

• ClinVar Variation Id: 850087
• ClinVar RCV Id: RCV001054178
• dbSNP Id: rs2043996054

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48534193_48534194insGG , CM000677.2:g.48534193_48534194insGG	GRCh38
NC_000015.9:g.48826390_48826391insGG , CM000677.1:g.48826390_48826391insGG	GRCh37
NC_000015.8:g.46613682_46613683insGG	NCBI36
NG_008805.2:g.116595_116596insCC , LRG_778:g.116595_116596insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.748_749insCC	ENSP00000453958.2:p.Cys250SerfsTer?
ENST00000674301.2:c.748_749insCC	ENSP00000501333.2:p.Cys250SerfsTer?
ENST00000316623.10:c.748_749insCC MANE Select	ENSP00000325527.5:p.Cys250SerfsTer?
ENST00000316623.9:c.748_749insCC	ENSP00000325527.5:p.Cys250SerfsTer?
ENST00000537463.6:c.636+3517_636+3518insCC	ENSP00000440294.2:n.636+3517_636+3518insCC
NM_000138.4:c.748_749insCC , LRG_778t1:c.748_749insCC	NP_000129.3:p.Cys250SerfsTer?
NM_000138.5:c.748_749insCC MANE Select	NP_000129.3:p.Cys250SerfsTer?