Canonical Allele Identifier: CA2573054034

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1329364
• ClinVar RCV Id: RCV001799407
• dbSNP Id: rs2141272280

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467963_48467977delinsTG , CM000677.2:g.48467963_48467977delinsTG	GRCh38
NC_000015.9:g.48760160_48760174delinsTG , CM000677.1:g.48760160_48760174delinsTG	GRCh37
NC_000015.8:g.46547452_46547466delinsTG	NCBI36
NG_008805.2:g.182812_182826delinsCA , LRG_778:g.182812_182826delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4708_4722delinsCA	ENSP00000453958.2:p.Trp1570GlnfsTer7
ENST00000674301.2:c.4708_4722delinsCA	ENSP00000501333.2:p.Trp1570GlnfsTer7
ENST00000684448.1:n.3382_3396delinsCA
ENST00000316623.10:c.4708_4722delinsCA MANE Select	ENSP00000325527.5:p.Trp1570GlnfsTer7
ENST00000316623.9:c.4708_4722delinsCA	ENSP00000325527.5:p.Trp1570GlnfsTer7
ENST00000537463.6:c.*471_*485delinsCA	ENSP00000440294.2:n.*471_*485delinsCA
ENST00000559133.5:c.15_29delinsCA
NM_000138.4:c.4708_4722delinsCA , LRG_778t1:c.4708_4722delinsCA	NP_000129.3:p.Trp1570GlnfsTer7
NM_000138.5:c.4708_4722delinsCA MANE Select	NP_000129.3:p.Trp1570GlnfsTer7