Canonical Allele Identifier: CA915946595

Gene: FBN1

Linked Data

• ClinVar Variation Id: 684581
• ClinVar RCV Id: RCV000984048
• dbSNP Id: rs1597574308

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503919_48503938delinsCT , CM000677.2:g.48503919_48503938delinsCT	GRCh38
NC_000015.9:g.48796116_48796135delinsCT , CM000677.1:g.48796116_48796135delinsCT	GRCh37
NC_000015.8:g.46583408_46583427delinsCT	NCBI36
NG_008805.2:g.146851_146870delinsAG , LRG_778:g.146851_146870delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1962_1981delinsAG	ENSP00000453958.2:p.Asp654_Cys661delinsGluGly
ENST00000674301.2:c.1962_1981delinsAG	ENSP00000501333.2:p.Asp654_Cys661delinsGluGly
ENST00000684448.1:n.636_655delinsAG
ENST00000316623.10:c.1962_1981delinsAG MANE Select	ENSP00000325527.5:p.Asp654_Cys661delinsGluGly
ENST00000316623.9:c.1962_1981delinsAG	ENSP00000325527.5:p.Asp654_Cys661delinsGluGly
ENST00000537463.6:c.637-29288_637-29269delinsAG	ENSP00000440294.2:n.637-29288_637-29269delinsAG
NM_000138.4:c.1962_1981delinsAG , LRG_778t1:c.1962_1981delinsAG	NP_000129.3:p.Asp654_Cys661delinsGluGly
NM_000138.5:c.1962_1981delinsAG MANE Select	NP_000129.3:p.Asp654_Cys661delinsGluGly