Canonical Allele Identifier: CA2175492252

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425386_48425390delinsTCCTC , CM000677.2:g.48425386_48425390delinsTCCTC	GRCh38
NC_000015.9:g.48717583_48717587delinsTCCTC , CM000677.1:g.48717583_48717587delinsTCCTC	GRCh37
NC_000015.8:g.46504875_46504879delinsTCCTC	NCBI36
NG_008805.2:g.225399_225403delinsGAGGA , LRG_778:g.225399_225403delinsGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*240_*244delinsGAGGA	ENSP00000453958.2:n.*240_*244delinsGAGGA
ENST00000674301.2:c.*945_*949delinsGAGGA	ENSP00000501333.2:n.*945_*949delinsGAGGA
ENST00000682170.1:n.1613_1617delinsGAGGA
ENST00000682767.1:n.729_733delinsGAGGA
ENST00000316623.10:c.7432_7436delinsGAGGA MANE Select	ENSP00000325527.5:p.Glu2478=
ENST00000674301.1:c.2598_2602delinsGAGGA	ENSP00000501333.1:n.2598_2602delinsGAGGA
ENST00000316623.9:c.7432_7436delinsGAGGA	ENSP00000325527.5:p.Glu2478=
ENST00000559133.5:c.2801_2805delinsGAGGA
NM_000138.4:c.7432_7436delinsGAGGA , LRG_778t1:c.7432_7436delinsGAGGA	NP_000129.3:p.Glu2478=
NM_000138.5:c.7432_7436delinsGAGGA MANE Select	NP_000129.3:p.Glu2478=