Canonical Allele Identifier: CA2175520375

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472389_48472390delinsGC , CM000677.2:g.48472389_48472390delinsGC	GRCh38
NC_000015.9:g.48764586_48764587delinsGC , CM000677.1:g.48764586_48764587delinsGC	GRCh37
NC_000015.8:g.46551878_46551879delinsGC	NCBI36
NG_008805.2:g.178399_178400delinsGC , LRG_778:g.178399_178400delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+161_4336+162delinsGC	ENSP00000453958.2:n.4336+161_4336+162delinsGC
ENST00000674301.2:c.4336+161_4336+162delinsGC	ENSP00000501333.2:n.4336+161_4336+162delinsGC
ENST00000683268.1:n.303+161_303+162delinsGC
ENST00000684448.1:n.3010+161_3010+162delinsGC
ENST00000316623.10:c.4336+161_4336+162delinsGC MANE Select	ENSP00000325527.5:n.4336+161_4336+162delinsGC
ENST00000316623.9:c.4336+161_4336+162delinsGC	ENSP00000325527.5:n.4336+161_4336+162delinsGC
ENST00000537463.6:c.*99+161_*99+162delinsGC	ENSP00000440294.2:n.*99+161_*99+162delinsGC
NM_000138.4:c.4336+161_4336+162delinsGC , LRG_778t1:c.4336+161_4336+162delinsGC	NP_000129.3:n.4336+161_4336+162delinsGC
NM_000138.5:c.4336+161_4336+162delinsGC MANE Select	NP_000129.3:n.4336+161_4336+162delinsGC