Canonical Allele Identifier: CA658824474

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549048
• ClinVar RCV Id: RCV000663496
• dbSNP Id: rs1555399949
• MyVariant Identifiers: chr15:g.48800793del (hg19) ; chr15:g.48508596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508597del , CM000677.2:g.48508597del	GRCh38
NC_000015.9:g.48800794del , CM000677.1:g.48800794del	GRCh37
NC_000015.8:g.46588086del	NCBI36
NG_008805.2:g.142193del , LRG_778:g.142193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1823del	ENSP00000453958.2:p.Gly608AspfsTer17
ENST00000674301.2:c.1823del	ENSP00000501333.2:p.Gly608AspfsTer17
ENST00000684448.1:n.497del
ENST00000316623.10:c.1823del MANE Select	ENSP00000325527.5:p.Gly608AspfsTer17
ENST00000316623.9:c.1823del	ENSP00000325527.5:p.Gly608AspfsTer17
ENST00000537463.6:c.636+29115del	ENSP00000440294.2:n.636+29115del
NM_000138.4:c.1823del , LRG_778t1:c.1823del	NP_000129.3:p.Gly608AspfsTer17
NM_000138.5:c.1823del MANE Select	NP_000129.3:p.Gly608AspfsTer17