Canonical Allele Identifier: CA969556425

Gene: FBN1

Linked Data

• dbSNP Id: rs2043512819
• gnomAD v3: 15-48487021-A-AACATT
• gnomAD v4: 15-48487021-A-AACATT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487025_48487026insTACAT , CM000677.2:g.48487025_48487026insTACAT	GRCh38
NC_000015.9:g.48779222_48779223insTACAT , CM000677.1:g.48779222_48779223insTACAT	GRCh37
NC_000015.8:g.46566514_46566515insTACAT	NCBI36
NG_008805.2:g.163767_163768insAATGT , LRG_778:g.163767_163768insAATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+53_3589+54insAATGT	ENSP00000453958.2:n.3589+53_3589+54insAATGT
ENST00000674301.2:c.3589+53_3589+54insAATGT	ENSP00000501333.2:n.3589+53_3589+54insAATGT
ENST00000684448.1:n.2263+53_2263+54insAATGT
ENST00000316623.10:c.3589+53_3589+54insAATGT MANE Select	ENSP00000325527.5:n.3589+53_3589+54insAATGT
ENST00000316623.9:c.3589+53_3589+54insAATGT	ENSP00000325527.5:n.3589+53_3589+54insAATGT
ENST00000537463.6:c.637-12372_637-12371insAATGT	ENSP00000440294.2:n.637-12372_637-12371insAATGT
NM_000138.4:c.3589+53_3589+54insAATGT , LRG_778t1:c.3589+53_3589+54insAATGT	NP_000129.3:n.3589+53_3589+54insAATGT
NM_000138.5:c.3589+53_3589+54insAATGT MANE Select	NP_000129.3:n.3589+53_3589+54insAATGT