Canonical Allele Identifier: CA658824316

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549238
• ClinVar RCV Id: RCV000663734
• dbSNP Id: rs1555397210
• MyVariant Identifiers: chr15:g.48760680_48760690del (hg19) ; chr15:g.48468483_48468493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468483_48468493del , CM000677.2:g.48468483_48468493del	GRCh38
NC_000015.9:g.48760680_48760690del , CM000677.1:g.48760680_48760690del	GRCh37
NC_000015.8:g.46547972_46547982del	NCBI36
NG_008805.2:g.182296_182306del , LRG_778:g.182296_182306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4501_4511del	ENSP00000453958.2:p.Asn1501HisfsTer8
ENST00000674301.2:c.4501_4511del	ENSP00000501333.2:p.Asn1501HisfsTer8
ENST00000684448.1:n.3175_3185del
ENST00000316623.10:c.4501_4511del MANE Select	ENSP00000325527.5:p.Asn1501HisfsTer8
ENST00000316623.9:c.4501_4511del	ENSP00000325527.5:p.Asn1501HisfsTer8
ENST00000537463.6:c.*264_*274del	ENSP00000440294.2:n.*264_*274del
NM_000138.4:c.4501_4511del , LRG_778t1:c.4501_4511del	NP_000129.3:p.Asn1501HisfsTer8
NM_000138.5:c.4501_4511del MANE Select	NP_000129.3:p.Asn1501HisfsTer8