Canonical Allele Identifier: CA2628334339

Gene: FBN1

Linked Data

• gnomAD v4: 15-48468105-A-ACACAGCCAACTCGAGTTGGGTTCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468105_48468106insCACAGCCAACTCGAGTTGGGTTCAG , CM000677.2:g.48468105_48468106insCACAGCCAACTCGAGTTGGGTTCAG	GRCh38
NC_000015.9:g.48760302_48760303insCACAGCCAACTCGAGTTGGGTTCAG , CM000677.1:g.48760302_48760303insCACAGCCAACTCGAGTTGGGTTCAG	GRCh37
NC_000015.8:g.46547594_46547595insCACAGCCAACTCGAGTTGGGTTCAG	NCBI36
NG_008805.2:g.182683_182684insCTGAACCCAACTCGAGTTGGCTGTG , LRG_778:g.182683_182684insCTGAACCCAACTCGAGTTGGCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG	ENSP00000453958.2:n.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG...
ENST00000674301.2:c.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG	ENSP00000501333.2:n.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG...
ENST00000684448.1:n.3257-4_3257-3insCTGAACCCAACTCGAGTTGGCTGTG
ENST00000316623.10:c.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG MANE Select	ENSP00000325527.5:n.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG...
ENST00000316623.9:c.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG	ENSP00000325527.5:n.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG...
ENST00000537463.6:c.*346-4_*346-3insCTGAACCCAACTCGAGTTGGCTGTG	ENSP00000440294.2:n.*346-4_*346-3insCTGAACCCAACTCGAGTTGGCTGTG...
NM_000138.4:c.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG , LRG_778t1:c.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG	NP_000129.3:n.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG
NM_000138.5:c.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG MANE Select	NP_000129.3:n.4583-4_4583-3insCTGAACCCAACTCGAGTTGGCTGTG