Canonical Allele Identifier: CA1581261101

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317282_128317283delinsCT , CM000667.2:g.128317282_128317283delinsCT	GRCh38
NC_000005.9:g.127652974_127652975delinsCT , CM000667.1:g.127652974_127652975delinsCT	GRCh37
NC_000005.8:g.127680873_127680874delinsCT	NCBI36
NG_008750.1:g.225761_225762delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+866_1501+867delinsAG
ENST00000703785.1:n.1582+866_1582+867delinsAG
ENST00000262464.9:c.4717+866_4717+867delinsAG MANE Select	ENSP00000262464.4:n.4717+866_4717+867delinsAG
ENST00000262464.8:c.4717+866_4717+867delinsAG	ENSP00000262464.4:n.4717+866_4717+867delinsAG
ENST00000508053.5:c.4717+866_4717+867delinsAG	ENSP00000424571.1:n.4717+866_4717+867delinsAG
ENST00000619499.4:c.4714+866_4714+867delinsAG	ENSP00000482132.1:n.4714+866_4714+867delinsAG
NM_001999.3:c.4717+866_4717+867delinsAG	NP_001990.2:n.4717+866_4717+867delinsAG
XM_017009228.2:c.4564+866_4564+867delinsAG	XP_016864717.1:n.4564+866_4564+867delinsAG
NM_001999.4:c.4717+866_4717+867delinsAG MANE Select	NP_001990.2:n.4717+866_4717+867delinsAG