Canonical Allele Identifier: CA2175518251

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468055_48468056delinsTG , CM000677.2:g.48468055_48468056delinsTG	GRCh38
NC_000015.9:g.48760252_48760253delinsTG , CM000677.1:g.48760252_48760253delinsTG	GRCh37
NC_000015.8:g.46547544_46547545delinsTG	NCBI36
NG_008805.2:g.182733_182734delinsCA , LRG_778:g.182733_182734delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4629_4630delinsCA	ENSP00000453958.2:p.Asp1543=
ENST00000674301.2:c.4629_4630delinsCA	ENSP00000501333.2:p.Asp1543=
ENST00000684448.1:n.3303_3304delinsCA
ENST00000316623.10:c.4629_4630delinsCA MANE Select	ENSP00000325527.5:p.Asp1543=
ENST00000316623.9:c.4629_4630delinsCA	ENSP00000325527.5:p.Asp1543=
ENST00000537463.6:c.*392_*393delinsCA	ENSP00000440294.2:n.*392_*393delinsCA
NM_000138.4:c.4629_4630delinsCA , LRG_778t1:c.4629_4630delinsCA	NP_000129.3:p.Asp1543=
NM_000138.5:c.4629_4630delinsCA MANE Select	NP_000129.3:p.Asp1543=