Canonical Allele Identifier: CA2175498170

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448775_48448776delinsCA , CM000677.2:g.48448775_48448776delinsCA	GRCh38
NC_000015.9:g.48740972_48740973delinsCA , CM000677.1:g.48740972_48740973delinsCA	GRCh37
NC_000015.8:g.46528264_46528265delinsCA	NCBI36
NG_008805.2:g.202013_202014delinsTG , LRG_778:g.202013_202014delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5663_5664delinsTG	ENSP00000453958.2:p.Met1888=
ENST00000674301.2:c.5663_5664delinsTG	ENSP00000501333.2:p.Met1888=
ENST00000684448.1:n.4337_4338delinsTG
ENST00000316623.10:c.5663_5664delinsTG MANE Select	ENSP00000325527.5:p.Met1888=
ENST00000674301.1:c.662_663delinsTG	ENSP00000501333.1:p.Met221=
ENST00000316623.9:c.5663_5664delinsTG	ENSP00000325527.5:p.Met1888=
ENST00000537463.6:c.*1426_*1427delinsTG	ENSP00000440294.2:n.*1426_*1427delinsTG
ENST00000559133.5:c.970_971delinsTG
NM_000138.4:c.5663_5664delinsTG , LRG_778t1:c.5663_5664delinsTG	NP_000129.3:p.Met1888=
NM_000138.5:c.5663_5664delinsTG MANE Select	NP_000129.3:p.Met1888=