Canonical Allele Identifier: CA2175513777

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48486886_48486887delinsTG , CM000677.2:g.48486886_48486887delinsTG	GRCh38
NC_000015.9:g.48779083_48779084delinsTG , CM000677.1:g.48779083_48779084delinsTG	GRCh37
NC_000015.8:g.46566375_46566376delinsTG	NCBI36
NG_008805.2:g.163902_163903delinsCA , LRG_778:g.163902_163903delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+188_3589+189delinsCA	ENSP00000453958.2:n.3589+188_3589+189delinsCA
ENST00000674301.2:c.3589+188_3589+189delinsCA	ENSP00000501333.2:n.3589+188_3589+189delinsCA
ENST00000684448.1:n.2263+188_2263+189delinsCA
ENST00000316623.10:c.3589+188_3589+189delinsCA MANE Select	ENSP00000325527.5:n.3589+188_3589+189delinsCA
ENST00000316623.9:c.3589+188_3589+189delinsCA	ENSP00000325527.5:n.3589+188_3589+189delinsCA
ENST00000537463.6:c.637-12237_637-12236delinsCA	ENSP00000440294.2:n.637-12237_637-12236delinsCA
NM_000138.4:c.3589+188_3589+189delinsCA , LRG_778t1:c.3589+188_3589+189delinsCA	NP_000129.3:n.3589+188_3589+189delinsCA
NM_000138.5:c.3589+188_3589+189delinsCA MANE Select	NP_000129.3:n.3589+188_3589+189delinsCA