Canonical Allele Identifier: CA2175494876

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446715_48446718delinsCATT , CM000677.2:g.48446715_48446718delinsCATT	GRCh38
NC_000015.9:g.48738912_48738915delinsCATT , CM000677.1:g.48738912_48738915delinsCATT	GRCh37
NC_000015.8:g.46526204_46526207delinsCATT	NCBI36
NG_008805.2:g.204071_204074delinsAATG , LRG_778:g.204071_204074delinsAATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5776_5779delinsAATG	ENSP00000453958.2:p.Asn1926=
ENST00000674301.2:c.5776_5779delinsAATG	ENSP00000501333.2:p.Asn1926=
ENST00000684448.1:n.4450_4453delinsAATG
ENST00000316623.10:c.5776_5779delinsAATG MANE Select	ENSP00000325527.5:p.Asn1926=
ENST00000674301.1:c.775_778delinsAATG	ENSP00000501333.1:p.Asn259=
ENST00000316623.9:c.5776_5779delinsAATG	ENSP00000325527.5:p.Asn1926=
ENST00000537463.6:c.*1539_*1542delinsAATG	ENSP00000440294.2:n.*1539_*1542delinsAATG...
ENST00000559133.5:c.1083_1086delinsAATG
NM_000138.4:c.5776_5779delinsAATG , LRG_778t1:c.5776_5779delinsAATG	NP_000129.3:p.Asn1926=
NM_000138.5:c.5776_5779delinsAATG MANE Select	NP_000129.3:p.Asn1926=