Canonical Allele Identifier: CA2175513926

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487034_48487038delinsGTAAA , CM000677.2:g.48487034_48487038delinsGTAAA	GRCh38
NC_000015.9:g.48779231_48779235delinsGTAAA , CM000677.1:g.48779231_48779235delinsGTAAA	GRCh37
NC_000015.8:g.46566523_46566527delinsGTAAA	NCBI36
NG_008805.2:g.163751_163755delinsTTTAC , LRG_778:g.163751_163755delinsTTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+37_3589+41delinsTTTAC	ENSP00000453958.2:n.3589+37_3589+41delinsTTTAC
ENST00000674301.2:c.3589+37_3589+41delinsTTTAC	ENSP00000501333.2:n.3589+37_3589+41delinsTTTAC
ENST00000684448.1:n.2263+37_2263+41delinsTTTAC
ENST00000316623.10:c.3589+37_3589+41delinsTTTAC MANE Select	ENSP00000325527.5:n.3589+37_3589+41delinsTTTAC
ENST00000316623.9:c.3589+37_3589+41delinsTTTAC	ENSP00000325527.5:n.3589+37_3589+41delinsTTTAC
ENST00000537463.6:c.637-12388_637-12384delinsTTTAC	ENSP00000440294.2:n.637-12388_637-12384delinsTTTAC
NM_000138.4:c.3589+37_3589+41delinsTTTAC , LRG_778t1:c.3589+37_3589+41delinsTTTAC	NP_000129.3:n.3589+37_3589+41delinsTTTAC
NM_000138.5:c.3589+37_3589+41delinsTTTAC MANE Select	NP_000129.3:n.3589+37_3589+41delinsTTTAC