Canonical Allele Identifier: CA2175492331

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472627_48472636delinsGCACTGGCCA , CM000677.2:g.48472627_48472636delinsGCACTGGCCA	GRCh38
NC_000015.9:g.48764824_48764833delinsGCACTGGCCA , CM000677.1:g.48764824_48764833delinsGCACTGGCCA	GRCh37
NC_000015.8:g.46552116_46552125delinsGCACTGGCCA	NCBI36
NG_008805.2:g.178153_178162delinsTGGCCAGTGC , LRG_778:g.178153_178162delinsTGGCCAGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4251_4260delinsTGGCCAGTGC	ENSP00000453958.2:p.Asn1417=
ENST00000674301.2:c.4251_4260delinsTGGCCAGTGC	ENSP00000501333.2:p.Asn1417=
ENST00000683268.1:n.218_227delinsTGGCCAGTGC
ENST00000684448.1:n.2925_2934delinsTGGCCAGTGC
ENST00000316623.10:c.4251_4260delinsTGGCCAGTGC MANE Select	ENSP00000325527.5:p.Asn1417=
ENST00000316623.9:c.4251_4260delinsTGGCCAGTGC	ENSP00000325527.5:p.Asn1417=
ENST00000537463.6:c.*14_*23delinsTGGCCAGTGC	ENSP00000440294.2:n.*14_*23delinsTGGCCAGTGC
NM_000138.4:c.4251_4260delinsTGGCCAGTGC , LRG_778t1:c.4251_4260delinsTGGCCAGTGC	NP_000129.3:p.Asn1417=
NM_000138.5:c.4251_4260delinsTGGCCAGTGC MANE Select	NP_000129.3:p.Asn1417=