Canonical Allele Identifier: CA1581253500

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300940_128300951delinsTAGAGAAAAAGA , CM000667.2:g.128300940_128300951delinsTAGAGAAAAAGA	GRCh38
NC_000005.9:g.127636632_127636643delinsTAGAGAAAAAGA , CM000667.1:g.127636632_127636643delinsTAGAGAAAAAGA	GRCh37
NC_000005.8:g.127664531_127664542delinsTAGAGAAAAAGA	NCBI36
NG_008750.1:g.242093_242104delinsTCTTTTTCTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2831-15_2831-4delinsTCTTTTTCTCTA
ENST00000703785.1:n.2750-15_2750-4delinsTCTTTTTCTCTA
ENST00000262464.9:c.6047-15_6047-4delinsTCTTTTTCTCTA MANE Select	ENSP00000262464.4:n.6047-15_6047-4delinsTCTTTTTCTCTA
ENST00000262464.8:c.6047-15_6047-4delinsTCTTTTTCTCTA	ENSP00000262464.4:n.6047-15_6047-4delinsTCTTTTTCTCTA
ENST00000508053.5:c.6047-15_6047-4delinsTCTTTTTCTCTA	ENSP00000424571.1:n.6047-15_6047-4delinsTCTTTTTCTCTA
ENST00000619499.4:c.6044-15_6044-4delinsTCTTTTTCTCTA	ENSP00000482132.1:n.6044-15_6044-4delinsTCTTTTTCTCTA
NM_001999.3:c.6047-15_6047-4delinsTCTTTTTCTCTA	NP_001990.2:n.6047-15_6047-4delinsTCTTTTTCTCTA
XM_017009228.2:c.5894-15_5894-4delinsTCTTTTTCTCTA	XP_016864717.1:n.5894-15_5894-4delinsTCTTTTTCTCTA
NM_001999.4:c.6047-15_6047-4delinsTCTTTTTCTCTA MANE Select	NP_001990.2:n.6047-15_6047-4delinsTCTTTTTCTCTA