Canonical Allele Identifier: CA2573150780

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1325480
• ClinVar RCV Id: RCV002246092
• dbSNP Id: rs2141315944

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503930_48503931del , CM000677.2:g.48503930_48503931del	GRCh38
NC_000015.9:g.48796127_48796128del , CM000677.1:g.48796127_48796128del	GRCh37
NC_000015.8:g.46583419_46583420del	NCBI36
NG_008805.2:g.146858_146859del , LRG_778:g.146858_146859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1969_1970del	ENSP00000453958.2:p.Met657AlafsTer23
ENST00000674301.2:c.1969_1970del	ENSP00000501333.2:p.Met657AlafsTer23
ENST00000684448.1:n.643_644del
ENST00000316623.10:c.1969_1970del MANE Select	ENSP00000325527.5:p.Met657AlafsTer23
ENST00000316623.9:c.1969_1970del	ENSP00000325527.5:p.Met657AlafsTer23
ENST00000537463.6:c.637-29281_637-29280del	ENSP00000440294.2:n.637-29281_637-29280del
NM_000138.4:c.1969_1970del , LRG_778t1:c.1969_1970del	NP_000129.3:p.Met657AlafsTer23
NM_000138.5:c.1969_1970del MANE Select	NP_000129.3:p.Met657AlafsTer23