Canonical Allele Identifier: CA2628336713

Gene: FBN1

Linked Data

• gnomAD v4: 15-48520922-G-GAGGTGTGAGTTAATCCTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520922_48520923insAGGTGTGAGTTAATCCTGCC , CM000677.2:g.48520922_48520923insAGGTGTGAGTTAATCCTGCC	GRCh38
NC_000015.9:g.48813119_48813120insAGGTGTGAGTTAATCCTGCC , CM000677.1:g.48813119_48813120insAGGTGTGAGTTAATCCTGCC	GRCh37
NC_000015.8:g.46600411_46600412insAGGTGTGAGTTAATCCTGCC	NCBI36
NG_008805.2:g.129866_129867insGGCAGGATTAACTCACACCT , LRG_778:g.129866_129867insGGCAGGATTAACTCACACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-106_989-105insGGCAGGATTAACTCACACCT	ENSP00000453958.2:n.989-106_989-105insGGCAGGATTAACTCACACCT
ENST00000674301.2:c.989-106_989-105insGGCAGGATTAACTCACACCT	ENSP00000501333.2:n.989-106_989-105insGGCAGGATTAACTCACACCT
ENST00000316623.10:c.989-106_989-105insGGCAGGATTAACTCACACCT MANE Select	ENSP00000325527.5:n.989-106_989-105insGGCAGGATTAACTCACACCT
ENST00000316623.9:c.989-106_989-105insGGCAGGATTAACTCACACCT	ENSP00000325527.5:n.989-106_989-105insGGCAGGATTAACTCACACCT
ENST00000537463.6:c.636+16788_636+16789insGGCAGGATTAACTCACACCT	ENSP00000440294.2:n.636+16788_636+16789insGGCAGGATTAACTCACACC...
NM_000138.4:c.989-106_989-105insGGCAGGATTAACTCACACCT , LRG_778t1:c.989-106_989-105insGGCAGGATTAACTCACACCT	NP_000129.3:n.989-106_989-105insGGCAGGATTAACTCACACCT
NM_000138.5:c.989-106_989-105insGGCAGGATTAACTCACACCT MANE Select	NP_000129.3:n.989-106_989-105insGGCAGGATTAACTCACACCT