Canonical Allele Identifier: CA2580089530

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2123773
• ClinVar RCV Id: RCV003035580

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434725_48434727del , CM000677.2:g.48434725_48434727del	GRCh38
NC_000015.9:g.48726922_48726924del , CM000677.1:g.48726922_48726924del	GRCh37
NC_000015.8:g.46514214_46514216del	NCBI36
NG_008805.2:g.216062_216064del , LRG_778:g.216062_216064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6497-14_6497-12del	ENSP00000453958.2:n.6497-14_6497-12del
ENST00000674301.2:c.6497-14_6497-12del	ENSP00000501333.2:n.6497-14_6497-12del
ENST00000682170.1:n.106-14_106-12del
ENST00000316623.10:c.6497-14_6497-12del MANE Select	ENSP00000325527.5:n.6497-14_6497-12del
ENST00000674301.1:c.1496-14_1496-12del	ENSP00000501333.1:n.1496-14_1496-12del
ENST00000316623.9:c.6497-14_6497-12del	ENSP00000325527.5:n.6497-14_6497-12del
ENST00000537463.6:c.*2260-14_*2260-12del	ENSP00000440294.2:n.*2260-14_*2260-12del
ENST00000559133.5:c.1804-14_1804-12del
NM_000138.4:c.6497-14_6497-12del , LRG_778t1:c.6497-14_6497-12del	NP_000129.3:n.6497-14_6497-12del
NM_000138.5:c.6497-14_6497-12del MANE Select	NP_000129.3:n.6497-14_6497-12del