Canonical Allele Identifier: CA2175521496

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490012_48490031delinsCGGCCAGCAATAGGCAGGGT , CM000677.2:g.48490012_48490031delinsCGGCCAGCAATAGGCAGGGT	GRCh38
NC_000015.9:g.48782209_48782228delinsCGGCCAGCAATAGGCAGGGT , CM000677.1:g.48782209_48782228delinsCGGCCAGCAATAGGCAGGGT	GRCh37
NC_000015.8:g.46569501_46569520delinsCGGCCAGCAATAGGCAGGGT	NCBI36
NG_008805.2:g.160758_160777delinsACCCTGCCTATTGCTGGCCG , LRG_778:g.160758_160777delinsACCCTGCCTATTGCTGGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2902_2921delinsACCCTGCCTATTGCTGGCCG	ENSP00000453958.2:p.Thr968=
ENST00000674301.2:c.2902_2921delinsACCCTGCCTATTGCTGGCCG	ENSP00000501333.2:p.Thr968=
ENST00000684448.1:n.1576_1595delinsACCCTGCCTATTGCTGGCCG
ENST00000316623.10:c.2902_2921delinsACCCTGCCTATTGCTGGCCG MANE Select	ENSP00000325527.5:p.Thr968=
ENST00000316623.9:c.2902_2921delinsACCCTGCCTATTGCTGGCCG	ENSP00000325527.5:p.Thr968=
ENST00000537463.6:c.637-15381_637-15362delinsACCCTGCCTATTGCTGGCCG	ENSP00000440294.2:n.637-15381_637-15362delinsACCCTGCCTATTGCTG...
NM_000138.4:c.2902_2921delinsACCCTGCCTATTGCTGGCCG , LRG_778t1:c.2902_2921delinsACCCTGCCTATTGCTGGCCG	NP_000129.3:p.Thr968=
NM_000138.5:c.2902_2921delinsACCCTGCCTATTGCTGGCCG MANE Select	NP_000129.3:p.Thr968=