Canonical Allele Identifier: CA2175537924

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520875_48520876delinsCA , CM000677.2:g.48520875_48520876delinsCA	GRCh38
NC_000015.9:g.48813072_48813073delinsCA , CM000677.1:g.48813072_48813073delinsCA	GRCh37
NC_000015.8:g.46600364_46600365delinsCA	NCBI36
NG_008805.2:g.129913_129914delinsTG , LRG_778:g.129913_129914delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-59_989-58delinsTG	ENSP00000453958.2:n.989-59_989-58delinsTG
ENST00000674301.2:c.989-59_989-58delinsTG	ENSP00000501333.2:n.989-59_989-58delinsTG
ENST00000316623.10:c.989-59_989-58delinsTG MANE Select	ENSP00000325527.5:n.989-59_989-58delinsTG
ENST00000316623.9:c.989-59_989-58delinsTG	ENSP00000325527.5:n.989-59_989-58delinsTG
ENST00000537463.6:c.636+16835_636+16836delinsTG	ENSP00000440294.2:n.636+16835_636+16836delinsTG
NM_000138.4:c.989-59_989-58delinsTG , LRG_778t1:c.989-59_989-58delinsTG	NP_000129.3:n.989-59_989-58delinsTG
NM_000138.5:c.989-59_989-58delinsTG MANE Select	NP_000129.3:n.989-59_989-58delinsTG