Canonical Allele Identifier: CA2175488073

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412730_48412731delinsCA , CM000677.2:g.48412730_48412731delinsCA	GRCh38
NC_000015.9:g.48704927_48704928delinsCA , CM000677.1:g.48704927_48704928delinsCA	GRCh37
NC_000015.8:g.46492219_46492220delinsCA	NCBI36
NG_008805.2:g.238058_238059delinsTG , LRG_778:g.238058_238059delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*872_*873delinsTG	ENSP00000453958.2:n.*872_*873delinsTG
ENST00000674301.2:c.*1577_*1578delinsTG	ENSP00000501333.2:n.*1577_*1578delinsTG
ENST00000682158.1:n.1445_1446delinsTG
ENST00000682170.1:n.2245_2246delinsTG
ENST00000682767.1:n.1361_1362delinsTG
ENST00000316623.10:c.8064_8065delinsTG MANE Select	ENSP00000325527.5:p.Ser2688=
ENST00000674301.1:c.3230_3231delinsTG	ENSP00000501333.1:n.3230_3231delinsTG
ENST00000316623.9:c.8064_8065delinsTG	ENSP00000325527.5:p.Ser2688=
ENST00000559133.5:c.3433_3434delinsTG
ENST00000561429.1:n.319_320delinsTG
NM_000138.4:c.8064_8065delinsTG , LRG_778t1:c.8064_8065delinsTG	NP_000129.3:p.Ser2688=
NM_000138.5:c.8064_8065delinsTG MANE Select	NP_000129.3:p.Ser2688=