Canonical Allele Identifier: CA2695220509

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415577_48415583del , CM000677.2:g.48415577_48415583del	GRCh38
NC_000015.9:g.48707774_48707780del , CM000677.1:g.48707774_48707780del	GRCh37
NC_000015.8:g.46495066_46495072del	NCBI36
NG_008805.2:g.235207_235213del , LRG_778:g.235207_235213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*813_*819del	ENSP00000453958.2:n.*813_*819del
ENST00000674301.2:c.*1518_*1524del	ENSP00000501333.2:n.*1518_*1524del
ENST00000682158.1:n.1386_1392del
ENST00000682170.1:n.2186_2192del
ENST00000682767.1:n.1302_1308del
ENST00000316623.10:c.8005_8011del MANE Select	ENSP00000325527.5:p.Gly2669CysfsTer11
ENST00000674301.1:c.3171_3177del	ENSP00000501333.1:n.3171_3177del
ENST00000316623.9:c.8005_8011del	ENSP00000325527.5:p.Gly2669CysfsTer11
ENST00000559133.5:c.3374_3380del
ENST00000561429.1:n.260_266del
NM_000138.4:c.8005_8011del , LRG_778t1:c.8005_8011del	NP_000129.3:p.Gly2669CysfsTer11
NM_000138.5:c.8005_8011del MANE Select	NP_000129.3:p.Gly2669CysfsTer11