Canonical Allele Identifier: CA2175498785

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428591_48428594delinsTCTC , CM000677.2:g.48428591_48428594delinsTCTC	GRCh38
NC_000015.9:g.48720788_48720791delinsTCTC , CM000677.1:g.48720788_48720791delinsTCTC	GRCh37
NC_000015.8:g.46508080_46508083delinsTCTC	NCBI36
NG_008805.2:g.222195_222198delinsGAGA , LRG_778:g.222195_222198delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-123_6872-120delinsGAGA	ENSP00000453958.2:n.6872-123_6872-120delinsGAGA
ENST00000674301.2:c.*323-123_*323-120delinsGAGA	ENSP00000501333.2:n.*323-123_*323-120delinsGAGA
ENST00000682170.1:n.481-123_481-120delinsGAGA
ENST00000316623.10:c.6872-123_6872-120delinsGAGA MANE Select	ENSP00000325527.5:n.6872-123_6872-120delinsGAGA
ENST00000674301.1:c.1976-123_1976-120delinsGAGA	ENSP00000501333.1:n.1976-123_1976-120delinsGAGA
ENST00000316623.9:c.6872-123_6872-120delinsGAGA	ENSP00000325527.5:n.6872-123_6872-120delinsGAGA
ENST00000559133.5:c.2179-123_2179-120delinsGAGA
ENST00000560720.1:n.159-123_159-120delinsGAGA
NM_000138.4:c.6872-123_6872-120delinsGAGA , LRG_778t1:c.6872-123_6872-120delinsGAGA	NP_000129.3:n.6872-123_6872-120delinsGAGA
NM_000138.5:c.6872-123_6872-120delinsGAGA MANE Select	NP_000129.3:n.6872-123_6872-120delinsGAGA