Canonical Allele Identifier: CA2175513902

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487019_48487034delinsATAACATAAAATAAAG , CM000677.2:g.48487019_48487034delinsATAACATAAAATAAAG	GRCh38
NC_000015.9:g.48779216_48779231delinsATAACATAAAATAAAG , CM000677.1:g.48779216_48779231delinsATAACATAAAATAAAG	GRCh37
NC_000015.8:g.46566508_46566523delinsATAACATAAAATAAAG	NCBI36
NG_008805.2:g.163755_163770delinsCTTTATTTTATGTTAT , LRG_778:g.163755_163770delinsCTTTATTTTATGTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+41_3589+56delinsCTTTATTTTATGTTAT	ENSP00000453958.2:n.3589+41_3589+56delinsCTTTATTTTATGTTAT
ENST00000674301.2:c.3589+41_3589+56delinsCTTTATTTTATGTTAT	ENSP00000501333.2:n.3589+41_3589+56delinsCTTTATTTTATGTTAT
ENST00000684448.1:n.2263+41_2263+56delinsCTTTATTTTATGTTAT
ENST00000316623.10:c.3589+41_3589+56delinsCTTTATTTTATGTTAT MANE Select	ENSP00000325527.5:n.3589+41_3589+56delinsCTTTATTTTATGTTAT
ENST00000316623.9:c.3589+41_3589+56delinsCTTTATTTTATGTTAT	ENSP00000325527.5:n.3589+41_3589+56delinsCTTTATTTTATGTTAT
ENST00000537463.6:c.637-12384_637-12369delinsCTTTATTTTATGTTAT	ENSP00000440294.2:n.637-12384_637-12369delinsCTTTATTTTATGTTAT...
NM_000138.4:c.3589+41_3589+56delinsCTTTATTTTATGTTAT , LRG_778t1:c.3589+41_3589+56delinsCTTTATTTTATGTTAT	NP_000129.3:n.3589+41_3589+56delinsCTTTATTTTATGTTAT
NM_000138.5:c.3589+41_3589+56delinsCTTTATTTTATGTTAT MANE Select	NP_000129.3:n.3589+41_3589+56delinsCTTTATTTTATGTTAT