Canonical Allele Identifier: CA1581268486

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333192_128333194delinsCAA , CM000667.2:g.128333192_128333194delinsCAA	GRCh38
NC_000005.9:g.127668884_127668886delinsCAA , CM000667.1:g.127668884_127668886delinsCAA	GRCh37
NC_000005.8:g.127696783_127696785delinsCAA	NCBI36
NG_008750.1:g.209850_209852delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-160_884-158delinsTTG
ENST00000703785.1:n.965-160_965-158delinsTTG
ENST00000262464.9:c.4100-160_4100-158delinsTTG MANE Select	ENSP00000262464.4:n.4100-160_4100-158delinsTTG
ENST00000262464.8:c.4100-160_4100-158delinsTTG	ENSP00000262464.4:n.4100-160_4100-158delinsTTG
ENST00000507835.5:c.650-160_650-158delinsTTG	ENSP00000426839.1:n.650-160_650-158delinsTTG
ENST00000508053.5:c.4100-160_4100-158delinsTTG	ENSP00000424571.1:n.4100-160_4100-158delinsTTG
ENST00000508989.5:c.4001-160_4001-158delinsTTG	ENSP00000425596.1:n.4001-160_4001-158delinsTTG
ENST00000619499.4:c.4097-160_4097-158delinsTTG	ENSP00000482132.1:n.4097-160_4097-158delinsTTG
NM_001999.3:c.4100-160_4100-158delinsTTG	NP_001990.2:n.4100-160_4100-158delinsTTG
XM_017009228.2:c.3947-160_3947-158delinsTTG	XP_016864717.1:n.3947-160_3947-158delinsTTG
NM_001999.4:c.4100-160_4100-158delinsTTG MANE Select	NP_001990.2:n.4100-160_4100-158delinsTTG