Canonical Allele Identifier: CA2175464303

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421962_48421963delinsCG , CM000677.2:g.48421962_48421963delinsCG	GRCh38
NC_000015.9:g.48714159_48714160delinsCG , CM000677.1:g.48714159_48714160delinsCG	GRCh37
NC_000015.8:g.46501451_46501452delinsCG	NCBI36
NG_008805.2:g.228826_228827delinsCG , LRG_778:g.228826_228827delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*367_*368delinsCG	ENSP00000453958.2:n.*367_*368delinsCG
ENST00000674301.2:c.*1072_*1073delinsCG	ENSP00000501333.2:n.*1072_*1073delinsCG
ENST00000682170.1:n.1740_1741delinsCG
ENST00000682767.1:n.856_857delinsCG
ENST00000316623.10:c.7559_7560delinsCG MANE Select	ENSP00000325527.5:p.Thr2520=
ENST00000674301.1:c.2725_2726delinsCG	ENSP00000501333.1:n.2725_2726delinsCG
ENST00000316623.9:c.7559_7560delinsCG	ENSP00000325527.5:p.Thr2520=
ENST00000559133.5:c.2928_2929delinsCG
NM_000138.4:c.7559_7560delinsCG , LRG_778t1:c.7559_7560delinsCG	NP_000129.3:p.Thr2520=
NM_000138.5:c.7559_7560delinsCG MANE Select	NP_000129.3:p.Thr2520=