Canonical Allele Identifier: CA2175464495

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422014_48422015delinsGT , CM000677.2:g.48422014_48422015delinsGT	GRCh38
NC_000015.9:g.48714211_48714212delinsGT , CM000677.1:g.48714211_48714212delinsGT	GRCh37
NC_000015.8:g.46501503_46501504delinsGT	NCBI36
NG_008805.2:g.228774_228775delinsAC , LRG_778:g.228774_228775delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*315_*316delinsAC	ENSP00000453958.2:n.*315_*316delinsAC
ENST00000674301.2:c.*1020_*1021delinsAC	ENSP00000501333.2:n.*1020_*1021delinsAC
ENST00000682170.1:n.1688_1689delinsAC
ENST00000682767.1:n.804_805delinsAC
ENST00000316623.10:c.7507_7508delinsAC MANE Select	ENSP00000325527.5:p.Thr2503=
ENST00000674301.1:c.2673_2674delinsAC	ENSP00000501333.1:n.2673_2674delinsAC
ENST00000316623.9:c.7507_7508delinsAC	ENSP00000325527.5:p.Thr2503=
ENST00000559133.5:c.2876_2877delinsAC
NM_000138.4:c.7507_7508delinsAC , LRG_778t1:c.7507_7508delinsAC	NP_000129.3:p.Thr2503=
NM_000138.5:c.7507_7508delinsAC MANE Select	NP_000129.3:p.Thr2503=