Canonical Allele Identifier: CA2580089656

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1702404
• ClinVar RCV Id: RCV002278722
• dbSNP Id: rs2141272274

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467969_48467970insTGTGTACTCACAAGGA , CM000677.2:g.48467969_48467970insTGTGTACTCACAAGGA	GRCh38
NC_000015.9:g.48760166_48760167insTGTGTACTCACAAGGA , CM000677.1:g.48760166_48760167insTGTGTACTCACAAGGA	GRCh37
NC_000015.8:g.46547458_46547459insTGTGTACTCACAAGGA	NCBI36
NG_008805.2:g.182829_182830insTACACATCCTTGTGAG , LRG_778:g.182829_182830insTACACATCCTTGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4725_4726insTACACATCCTTGTGAG	ENSP00000453958.2:p.Met1576TyrfsTer5
ENST00000674301.2:c.4725_4726insTACACATCCTTGTGAG	ENSP00000501333.2:p.Met1576TyrfsTer5
ENST00000684448.1:n.3399_3400insTACACATCCTTGTGAG
ENST00000316623.10:c.4725_4726insTACACATCCTTGTGAG MANE Select	ENSP00000325527.5:p.Met1576TyrfsTer5
ENST00000316623.9:c.4725_4726insTACACATCCTTGTGAG	ENSP00000325527.5:p.Met1576TyrfsTer5
ENST00000537463.6:c.*488_*489insTACACATCCTTGTGAG	ENSP00000440294.2:n.*488_*489insTACACATCCTTGTGAG
ENST00000559133.5:c.32_33insTACACATCCTTGTGAG
NM_000138.4:c.4725_4726insTACACATCCTTGTGAG , LRG_778t1:c.4725_4726insTACACATCCTTGTGAG	NP_000129.3:p.Met1576TyrfsTer5
NM_000138.5:c.4725_4726insTACACATCCTTGTGAG MANE Select	NP_000129.3:p.Met1576TyrfsTer5