Canonical Allele Identifier: CA2695220586

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467957_48467959delinsAGGAGTAC , CM000677.2:g.48467957_48467959delinsAGGAGTAC	GRCh38
NC_000015.9:g.48760154_48760156delinsAGGAGTAC , CM000677.1:g.48760154_48760156delinsAGGAGTAC	GRCh37
NC_000015.8:g.46547446_46547448delinsAGGAGTAC	NCBI36
NG_008805.2:g.182830_182832delinsGTACTCCT , LRG_778:g.182830_182832delinsGTACTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4726_4728delinsGTACTCCT	ENSP00000453958.2:p.Met1576ValfsTer7
ENST00000674301.2:c.4726_4728delinsGTACTCCT	ENSP00000501333.2:p.Met1576ValfsTer7
ENST00000684448.1:n.3400_3402delinsGTACTCCT
ENST00000316623.10:c.4726_4728delinsGTACTCCT MANE Select	ENSP00000325527.5:p.Met1576ValfsTer7
ENST00000316623.9:c.4726_4728delinsGTACTCCT	ENSP00000325527.5:p.Met1576ValfsTer7
ENST00000537463.6:c.*489_*491delinsGTACTCCT	ENSP00000440294.2:n.*489_*491delinsGTACTCCT
ENST00000559133.5:c.33_35delinsGTACTCCT
NM_000138.4:c.4726_4728delinsGTACTCCT , LRG_778t1:c.4726_4728delinsGTACTCCT	NP_000129.3:p.Met1576ValfsTer7
NM_000138.5:c.4726_4728delinsGTACTCCT MANE Select	NP_000129.3:p.Met1576ValfsTer7