Canonical Allele Identifier: CA2175538082

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48521009_48521010delinsCT , CM000677.2:g.48521009_48521010delinsCT	GRCh38
NC_000015.9:g.48813206_48813207delinsCT , CM000677.1:g.48813206_48813207delinsCT	GRCh37
NC_000015.8:g.46600498_46600499delinsCT	NCBI36
NG_008805.2:g.129779_129780delinsAG , LRG_778:g.129779_129780delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-193_989-192delinsAG	ENSP00000453958.2:n.989-193_989-192delinsAG
ENST00000674301.2:c.989-193_989-192delinsAG	ENSP00000501333.2:n.989-193_989-192delinsAG
ENST00000316623.10:c.989-193_989-192delinsAG MANE Select	ENSP00000325527.5:n.989-193_989-192delinsAG
ENST00000316623.9:c.989-193_989-192delinsAG	ENSP00000325527.5:n.989-193_989-192delinsAG
ENST00000537463.6:c.636+16701_636+16702delinsAG	ENSP00000440294.2:n.636+16701_636+16702delinsAG
NM_000138.4:c.989-193_989-192delinsAG , LRG_778t1:c.989-193_989-192delinsAG	NP_000129.3:n.989-193_989-192delinsAG
NM_000138.5:c.989-193_989-192delinsAG MANE Select	NP_000129.3:n.989-193_989-192delinsAG