Canonical Allele Identifier: CA2175513835

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48486963_48486964delinsCA , CM000677.2:g.48486963_48486964delinsCA	GRCh38
NC_000015.9:g.48779160_48779161delinsCA , CM000677.1:g.48779160_48779161delinsCA	GRCh37
NC_000015.8:g.46566452_46566453delinsCA	NCBI36
NG_008805.2:g.163825_163826delinsTG , LRG_778:g.163825_163826delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+111_3589+112delinsTG	ENSP00000453958.2:n.3589+111_3589+112delinsTG
ENST00000674301.2:c.3589+111_3589+112delinsTG	ENSP00000501333.2:n.3589+111_3589+112delinsTG
ENST00000684448.1:n.2263+111_2263+112delinsTG
ENST00000316623.10:c.3589+111_3589+112delinsTG MANE Select	ENSP00000325527.5:n.3589+111_3589+112delinsTG
ENST00000316623.9:c.3589+111_3589+112delinsTG	ENSP00000325527.5:n.3589+111_3589+112delinsTG
ENST00000537463.6:c.637-12314_637-12313delinsTG	ENSP00000440294.2:n.637-12314_637-12313delinsTG
NM_000138.4:c.3589+111_3589+112delinsTG , LRG_778t1:c.3589+111_3589+112delinsTG	NP_000129.3:n.3589+111_3589+112delinsTG
NM_000138.5:c.3589+111_3589+112delinsTG MANE Select	NP_000129.3:n.3589+111_3589+112delinsTG