Canonical Allele Identifier: CA2580612800

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2091078
• ClinVar RCV Id: RCV003007869

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445426_48445431del , CM000677.2:g.48445426_48445431del	GRCh38
NC_000015.9:g.48737623_48737628del , CM000677.1:g.48737623_48737628del	GRCh37
NC_000015.8:g.46524915_46524920del	NCBI36
NG_008805.2:g.205365_205370del , LRG_778:g.205365_205370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5869_5874del	ENSP00000453958.2:p.Gln1957_Cys1958del
ENST00000674301.2:c.5869_5874del	ENSP00000501333.2:p.Gln1957_Cys1958del
ENST00000684448.1:n.4543_4548del
ENST00000316623.10:c.5869_5874del MANE Select	ENSP00000325527.5:p.Gln1957_Cys1958del
ENST00000674301.1:c.868_873del	ENSP00000501333.1:p.Gln290_Cys291del
ENST00000316623.9:c.5869_5874del	ENSP00000325527.5:p.Gln1957_Cys1958del
ENST00000537463.6:c.*1632_*1637del	ENSP00000440294.2:n.*1632_*1637del
ENST00000559133.5:c.1176_1181del
NM_000138.4:c.5869_5874del , LRG_778t1:c.5869_5874del	NP_000129.3:p.Gln1957_Cys1958del
NM_000138.5:c.5869_5874del MANE Select	NP_000129.3:p.Gln1957_Cys1958del