Canonical Allele Identifier: CA2175513220

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445157_48445167delinsCATATATATAT , CM000677.2:g.48445157_48445167delinsCATATATATAT	GRCh38
NC_000015.9:g.48737354_48737364delinsCATATATATAT , CM000677.1:g.48737354_48737364delinsCATATATATAT	GRCh37
NC_000015.8:g.46524646_46524656delinsCATATATATAT	NCBI36
NG_008805.2:g.205622_205632delinsATATATATATG , LRG_778:g.205622_205632delinsATATATATATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+209_5917+219delinsATATATATATG	ENSP00000453958.2:n.5917+209_5917+219delinsATATATATATG
ENST00000674301.2:c.5917+209_5917+219delinsATATATATATG	ENSP00000501333.2:n.5917+209_5917+219delinsATATATATATG
ENST00000684448.1:n.4591+209_4591+219delinsATATATATATG
ENST00000316623.10:c.5917+209_5917+219delinsATATATATATG MANE Select	ENSP00000325527.5:n.5917+209_5917+219delinsATATATATATG
ENST00000674301.1:c.916+209_916+219delinsATATATATATG	ENSP00000501333.1:n.916+209_916+219delinsATATATATATG
ENST00000316623.9:c.5917+209_5917+219delinsATATATATATG	ENSP00000325527.5:n.5917+209_5917+219delinsATATATATATG
ENST00000537463.6:c.*1680+209_*1680+219delinsATATATATATG	ENSP00000440294.2:n.*1680+209_*1680+219delinsATATATATATG
ENST00000559133.5:c.1224+209_1224+219delinsATATATATATG
ENST00000560820.1:n.37+209_37+219delinsATATATATATG
NM_000138.4:c.5917+209_5917+219delinsATATATATATG , LRG_778t1:c.5917+209_5917+219delinsATATATATATG	NP_000129.3:n.5917+209_5917+219delinsATATATATATG
NM_000138.5:c.5917+209_5917+219delinsATATATATATG MANE Select	NP_000129.3:n.5917+209_5917+219delinsATATATATATG