Canonical Allele Identifier: CA2175513865

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48486998_48487008delinsAATAAAATAAC , CM000677.2:g.48486998_48487008delinsAATAAAATAAC	GRCh38
NC_000015.9:g.48779195_48779205delinsAATAAAATAAC , CM000677.1:g.48779195_48779205delinsAATAAAATAAC	GRCh37
NC_000015.8:g.46566487_46566497delinsAATAAAATAAC	NCBI36
NG_008805.2:g.163781_163791delinsGTTATTTTATT , LRG_778:g.163781_163791delinsGTTATTTTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+67_3589+77delinsGTTATTTTATT	ENSP00000453958.2:n.3589+67_3589+77delinsGTTATTTTATT
ENST00000674301.2:c.3589+67_3589+77delinsGTTATTTTATT	ENSP00000501333.2:n.3589+67_3589+77delinsGTTATTTTATT
ENST00000684448.1:n.2263+67_2263+77delinsGTTATTTTATT
ENST00000316623.10:c.3589+67_3589+77delinsGTTATTTTATT MANE Select	ENSP00000325527.5:n.3589+67_3589+77delinsGTTATTTTATT
ENST00000316623.9:c.3589+67_3589+77delinsGTTATTTTATT	ENSP00000325527.5:n.3589+67_3589+77delinsGTTATTTTATT
ENST00000537463.6:c.637-12358_637-12348delinsGTTATTTTATT	ENSP00000440294.2:n.637-12358_637-12348delinsGTTATTTTATT
NM_000138.4:c.3589+67_3589+77delinsGTTATTTTATT , LRG_778t1:c.3589+67_3589+77delinsGTTATTTTATT	NP_000129.3:n.3589+67_3589+77delinsGTTATTTTATT
NM_000138.5:c.3589+67_3589+77delinsGTTATTTTATT MANE Select	NP_000129.3:n.3589+67_3589+77delinsGTTATTTTATT