Canonical Allele Identifier: CA2175518242

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468035_48468036delinsGC , CM000677.2:g.48468035_48468036delinsGC	GRCh38
NC_000015.9:g.48760232_48760233delinsGC , CM000677.1:g.48760232_48760233delinsGC	GRCh37
NC_000015.8:g.46547524_46547525delinsGC	NCBI36
NG_008805.2:g.182753_182754delinsGC , LRG_778:g.182753_182754delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4649_4650delinsGC	ENSP00000453958.2:p.Ser1550=
ENST00000674301.2:c.4649_4650delinsGC	ENSP00000501333.2:p.Ser1550=
ENST00000684448.1:n.3323_3324delinsGC
ENST00000316623.10:c.4649_4650delinsGC MANE Select	ENSP00000325527.5:p.Ser1550=
ENST00000316623.9:c.4649_4650delinsGC	ENSP00000325527.5:p.Ser1550=
ENST00000537463.6:c.*412_*413delinsGC	ENSP00000440294.2:n.*412_*413delinsGC
NM_000138.4:c.4649_4650delinsGC , LRG_778t1:c.4649_4650delinsGC	NP_000129.3:p.Ser1550=
NM_000138.5:c.4649_4650delinsGC MANE Select	NP_000129.3:p.Ser1550=