Canonical Allele Identifier: CA2175521958

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490265_48490269delinsCTCTT , CM000677.2:g.48490265_48490269delinsCTCTT	GRCh38
NC_000015.9:g.48782462_48782466delinsCTCTT , CM000677.1:g.48782462_48782466delinsCTCTT	GRCh37
NC_000015.8:g.46569754_46569758delinsCTCTT	NCBI36
NG_008805.2:g.160520_160524delinsAAGAG , LRG_778:g.160520_160524delinsAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-191_2855-187delinsAAGAG	ENSP00000453958.2:n.2855-191_2855-187delinsAAGAG
ENST00000674301.2:c.2855-191_2855-187delinsAAGAG	ENSP00000501333.2:n.2855-191_2855-187delinsAAGAG
ENST00000684448.1:n.1529-191_1529-187delinsAAGAG
ENST00000316623.10:c.2855-191_2855-187delinsAAGAG MANE Select	ENSP00000325527.5:n.2855-191_2855-187delinsAAGAG
ENST00000316623.9:c.2855-191_2855-187delinsAAGAG	ENSP00000325527.5:n.2855-191_2855-187delinsAAGAG
ENST00000537463.6:c.637-15619_637-15615delinsAAGAG	ENSP00000440294.2:n.637-15619_637-15615delinsAAGAG
NM_000138.4:c.2855-191_2855-187delinsAAGAG , LRG_778t1:c.2855-191_2855-187delinsAAGAG	NP_000129.3:n.2855-191_2855-187delinsAAGAG
NM_000138.5:c.2855-191_2855-187delinsAAGAG MANE Select	NP_000129.3:n.2855-191_2855-187delinsAAGAG