Canonical Allele Identifier: CA2175514258

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487213_48487216delinsTAAG , CM000677.2:g.48487213_48487216delinsTAAG	GRCh38
NC_000015.9:g.48779410_48779413delinsTAAG , CM000677.1:g.48779410_48779413delinsTAAG	GRCh37
NC_000015.8:g.46566702_46566705delinsTAAG	NCBI36
NG_008805.2:g.163573_163576delinsCTTA , LRG_778:g.163573_163576delinsCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3464-16_3464-13delinsCTTA	ENSP00000453958.2:n.3464-16_3464-13delinsCTTA
ENST00000674301.2:c.3464-16_3464-13delinsCTTA	ENSP00000501333.2:n.3464-16_3464-13delinsCTTA
ENST00000684448.1:n.2138-16_2138-13delinsCTTA
ENST00000316623.10:c.3464-16_3464-13delinsCTTA MANE Select	ENSP00000325527.5:n.3464-16_3464-13delinsCTTA
ENST00000316623.9:c.3464-16_3464-13delinsCTTA	ENSP00000325527.5:n.3464-16_3464-13delinsCTTA
ENST00000537463.6:c.637-12566_637-12563delinsCTTA	ENSP00000440294.2:n.637-12566_637-12563delinsCTTA
NM_000138.4:c.3464-16_3464-13delinsCTTA , LRG_778t1:c.3464-16_3464-13delinsCTTA	NP_000129.3:n.3464-16_3464-13delinsCTTA
NM_000138.5:c.3464-16_3464-13delinsCTTA MANE Select	NP_000129.3:n.3464-16_3464-13delinsCTTA