Canonical Allele Identifier: CA2175513919

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487028_48487039delinsAATAAAGTAAAA , CM000677.2:g.48487028_48487039delinsAATAAAGTAAAA	GRCh38
NC_000015.9:g.48779225_48779236delinsAATAAAGTAAAA , CM000677.1:g.48779225_48779236delinsAATAAAGTAAAA	GRCh37
NC_000015.8:g.46566517_46566528delinsAATAAAGTAAAA	NCBI36
NG_008805.2:g.163750_163761delinsTTTTACTTTATT , LRG_778:g.163750_163761delinsTTTTACTTTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+36_3589+47delinsTTTTACTTTATT	ENSP00000453958.2:n.3589+36_3589+47delinsTTTTACTTTATT
ENST00000674301.2:c.3589+36_3589+47delinsTTTTACTTTATT	ENSP00000501333.2:n.3589+36_3589+47delinsTTTTACTTTATT
ENST00000684448.1:n.2263+36_2263+47delinsTTTTACTTTATT
ENST00000316623.10:c.3589+36_3589+47delinsTTTTACTTTATT MANE Select	ENSP00000325527.5:n.3589+36_3589+47delinsTTTTACTTTATT
ENST00000316623.9:c.3589+36_3589+47delinsTTTTACTTTATT	ENSP00000325527.5:n.3589+36_3589+47delinsTTTTACTTTATT
ENST00000537463.6:c.637-12389_637-12378delinsTTTTACTTTATT	ENSP00000440294.2:n.637-12389_637-12378delinsTTTTACTTTATT
NM_000138.4:c.3589+36_3589+47delinsTTTTACTTTATT , LRG_778t1:c.3589+36_3589+47delinsTTTTACTTTATT	NP_000129.3:n.3589+36_3589+47delinsTTTTACTTTATT
NM_000138.5:c.3589+36_3589+47delinsTTTTACTTTATT MANE Select	NP_000129.3:n.3589+36_3589+47delinsTTTTACTTTATT