Canonical Allele Identifier: CA1581261130

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317339_128317343delinsCAAAT , CM000667.2:g.128317339_128317343delinsCAAAT	GRCh38
NC_000005.9:g.127653031_127653035delinsCAAAT , CM000667.1:g.127653031_127653035delinsCAAAT	GRCh37
NC_000005.8:g.127680930_127680934delinsCAAAT	NCBI36
NG_008750.1:g.225701_225705delinsATTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1501+806_1501+810delinsATTTG
ENST00000703785.1:n.1582+806_1582+810delinsATTTG
ENST00000262464.9:c.4717+806_4717+810delinsATTTG MANE Select	ENSP00000262464.4:n.4717+806_4717+810deli...
ENST00000262464.8:c.4717+806_4717+810delinsATTTG	ENSP00000262464.4:n.4717+806_4717+810deli...
ENST00000508053.5:c.4717+806_4717+810delinsATTTG	ENSP00000424571.1:n.4717+806_4717+810deli...
ENST00000619499.4:c.4714+806_4714+810delinsATTTG	ENSP00000482132.1:n.4714+806_4714+810deli...
NM_001999.3:c.4717+806_4717+810delinsATTTG	NP_001990.2:n.4717+806_4717+810delinsATTT...
XM_017009228.2:c.4564+806_4564+810delinsATTTG	XP_016864717.1:n.4564+806_4564+810delinsA...
NM_001999.4:c.4717+806_4717+810delinsATTTG MANE Select	NP_001990.2:n.4717+806_4717+810delinsATTT...