Canonical Allele Identifier: CA2175513194

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445155_48445169delinsTACATATATATATAC , CM000677.2:g.48445155_48445169delinsTACATATATATATAC	GRCh38
NC_000015.9:g.48737352_48737366delinsTACATATATATATAC , CM000677.1:g.48737352_48737366delinsTACATATATATATAC	GRCh37
NC_000015.8:g.46524644_46524658delinsTACATATATATATAC	NCBI36
NG_008805.2:g.205620_205634delinsGTATATATATATGTA , LRG_778:g.205620_205634delinsGTATATATATATGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+207_5917+221delinsGTATATATATATGTA	ENSP00000453958.2:n.5917+207_5917+221delinsGTATATATATATGTA
ENST00000674301.2:c.5917+207_5917+221delinsGTATATATATATGTA	ENSP00000501333.2:n.5917+207_5917+221delinsGTATATATATATGTA
ENST00000684448.1:n.4591+207_4591+221delinsGTATATATATATGTA
ENST00000316623.10:c.5917+207_5917+221delinsGTATATATATATGTA MANE Select	ENSP00000325527.5:n.5917+207_5917+221delinsGTATATATATATGTA
ENST00000674301.1:c.916+207_916+221delinsGTATATATATATGTA	ENSP00000501333.1:n.916+207_916+221delinsGTATATATATATGTA
ENST00000316623.9:c.5917+207_5917+221delinsGTATATATATATGTA	ENSP00000325527.5:n.5917+207_5917+221delinsGTATATATATATGTA
ENST00000537463.6:c.*1680+207_*1680+221delinsGTATATATATATGTA	ENSP00000440294.2:n.*1680+207_*1680+221delinsGTATATATATATGTA
ENST00000559133.5:c.1224+207_1224+221delinsGTATATATATATGTA
ENST00000560820.1:n.37+207_37+221delinsGTATATATATATGTA
NM_000138.4:c.5917+207_5917+221delinsGTATATATATATGTA , LRG_778t1:c.5917+207_5917+221delinsGTATATATATATGTA	NP_000129.3:n.5917+207_5917+221delinsGTATATATATATGTA
NM_000138.5:c.5917+207_5917+221delinsGTATATATATATGTA MANE Select	NP_000129.3:n.5917+207_5917+221delinsGTATATATATATGTA