Canonical Allele Identifier: CA2175515194

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487502_48487503delinsCT , CM000677.2:g.48487502_48487503delinsCT	GRCh38
NC_000015.9:g.48779699_48779700delinsCT , CM000677.1:g.48779699_48779700delinsCT	GRCh37
NC_000015.8:g.46566991_46566992delinsCT	NCBI36
NG_008805.2:g.163286_163287delinsAG , LRG_778:g.163286_163287delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-66_3338-65delinsAG	ENSP00000453958.2:n.3338-66_3338-65delinsAG
ENST00000674301.2:c.3338-66_3338-65delinsAG	ENSP00000501333.2:n.3338-66_3338-65delinsAG
ENST00000684448.1:n.2012-66_2012-65delinsAG
ENST00000316623.10:c.3338-66_3338-65delinsAG MANE Select	ENSP00000325527.5:n.3338-66_3338-65delinsAG
ENST00000316623.9:c.3338-66_3338-65delinsAG	ENSP00000325527.5:n.3338-66_3338-65delinsAG
ENST00000537463.6:c.637-12853_637-12852delinsAG	ENSP00000440294.2:n.637-12853_637-12852delinsAG
NM_000138.4:c.3338-66_3338-65delinsAG , LRG_778t1:c.3338-66_3338-65delinsAG	NP_000129.3:n.3338-66_3338-65delinsAG
NM_000138.5:c.3338-66_3338-65delinsAG MANE Select	NP_000129.3:n.3338-66_3338-65delinsAG