Canonical Allele Identifier: CA2628329937

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422213-A-ATTTTTTCCTCTCCTACTCACCAATG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422213_48422214insTTTTTTCCTCTCCTACTCACCAATG , CM000677.2:g.48422213_48422214insTTTTTTCCTCTCCTACTCACCAATG	GRCh38
NC_000015.9:g.48714410_48714411insTTTTTTCCTCTCCTACTCACCAATG , CM000677.1:g.48714410_48714411insTTTTTTCCTCTCCTACTCACCAATG	GRCh37
NC_000015.8:g.46501702_46501703insTTTTTTCCTCTCCTACTCACCAATG	NCBI36
NG_008805.2:g.228575_228576insCATTGGTGAGTAGGAGAGGAAAAAA , LRG_778:g.228575_228576insCATTGGTGAGTAGGAGAGGAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-146_*262-145insCATTGGTGAGTAGGAGAGGAAAAAA	ENSP00000453958.2:n.*262-146_*262-145insCATTGGTGAGTAGGAGAGGAA...
ENST00000674301.2:c.*967-146_*967-145insCATTGGTGAGTAGGAGAGGAAAAAA	ENSP00000501333.2:n.*967-146_*967-145insCATTGGTGAGTAGGAGAGGAA...
ENST00000682170.1:n.1635-146_1635-145insCATTGGTGAGTAGGAGAGGAAAAAA
ENST00000682767.1:n.751-146_751-145insCATTGGTGAGTAGGAGAGGAAAAAA
ENST00000316623.10:c.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAAAAAA MANE Select	ENSP00000325527.5:n.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAA...
ENST00000674301.1:c.2620-146_2620-145insCATTGGTGAGTAGGAGAGGAAAAAA	ENSP00000501333.1:n.2620-146_2620-145insCATTGGTGAGTAGGAGAGGAA...
ENST00000316623.9:c.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAAAAAA	ENSP00000325527.5:n.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAA...
ENST00000559133.5:c.2823-146_2823-145insCATTGGTGAGTAGGAGAGGAAAAAA
NM_000138.4:c.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAAAAAA , LRG_778t1:c.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAAAAAA	NP_000129.3:n.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAAAAAA
NM_000138.5:c.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAAAAAA MANE Select	NP_000129.3:n.7454-146_7454-145insCATTGGTGAGTAGGAGAGGAAAAAA