Canonical Allele Identifier: CA2628336750

Gene: FBN1

Linked Data

• gnomAD v4: 15-48520967-T-TGTTCCTGTGCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520968_48520969insTTCCTGTGCAGCG , CM000677.2:g.48520968_48520969insTTCCTGTGCAGCG	GRCh38
NC_000015.9:g.48813165_48813166insTTCCTGTGCAGCG , CM000677.1:g.48813165_48813166insTTCCTGTGCAGCG	GRCh37
NC_000015.8:g.46600457_46600458insTTCCTGTGCAGCG	NCBI36
NG_008805.2:g.129821_129822insGCTGCACAGGAAC , LRG_778:g.129821_129822insGCTGCACAGGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-151_989-150insGCTGCACAGGAAC	ENSP00000453958.2:n.989-151_989-150insGCTGCACAGGAAC
ENST00000674301.2:c.989-151_989-150insGCTGCACAGGAAC	ENSP00000501333.2:n.989-151_989-150insGCTGCACAGGAAC
ENST00000316623.10:c.989-151_989-150insGCTGCACAGGAAC MANE Select	ENSP00000325527.5:n.989-151_989-150insGCTGCACAGGAAC
ENST00000316623.9:c.989-151_989-150insGCTGCACAGGAAC	ENSP00000325527.5:n.989-151_989-150insGCTGCACAGGAAC
ENST00000537463.6:c.636+16743_636+16744insGCTGCACAGGAAC	ENSP00000440294.2:n.636+16743_636+16744insGCTGCACAGGAAC
NM_000138.4:c.989-151_989-150insGCTGCACAGGAAC , LRG_778t1:c.989-151_989-150insGCTGCACAGGAAC	NP_000129.3:n.989-151_989-150insGCTGCACAGGAAC
NM_000138.5:c.989-151_989-150insGCTGCACAGGAAC MANE Select	NP_000129.3:n.989-151_989-150insGCTGCACAGGAAC