Canonical Allele Identifier: CA2695220508

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415570_48415576dup , CM000677.2:g.48415570_48415576dup	GRCh38
NC_000015.9:g.48707767_48707773dup , CM000677.1:g.48707767_48707773dup	GRCh37
NC_000015.8:g.46495059_46495065dup	NCBI36
NG_008805.2:g.235213_235219dup , LRG_778:g.235213_235219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*819_*825dup	ENSP00000453958.2:n.*819_*825dup
ENST00000674301.2:c.*1524_*1530dup	ENSP00000501333.2:n.*1524_*1530dup
ENST00000682158.1:n.1392_1398dup
ENST00000682170.1:n.2192_2198dup
ENST00000682767.1:n.1308_1314dup
ENST00000316623.10:c.8011_8017dup MANE Select	ENSP00000325527.5:p.Gly2673AlafsTer?
ENST00000674301.1:c.3177_3183dup	ENSP00000501333.1:n.3177_3183dup
ENST00000316623.9:c.8011_8017dup	ENSP00000325527.5:p.Gly2673AlafsTer?
ENST00000559133.5:c.3380_3386dup
ENST00000561429.1:n.266_272dup
NM_000138.4:c.8011_8017dup , LRG_778t1:c.8011_8017dup	NP_000129.3:p.Gly2673AlafsTer?
NM_000138.5:c.8011_8017dup MANE Select	NP_000129.3:p.Gly2673AlafsTer?