Canonical Allele Identifier: CA013002

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42304
• ClinVar RCV Id: RCV000035138 ; RCV003764662
• dbSNP Id: rs397515769
• MyVariant Identifiers: chr15:g.48788303_48788304del (hg19) ; chr15:g.48496106_48496107del (hg38)
• PubMed: PMID:10533071 ; PMID:11453977

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48496106_48496107del , CM000677.2:g.48496106_48496107del	GRCh38
NC_000015.9:g.48788303_48788304del , CM000677.1:g.48788303_48788304del	GRCh37
NC_000015.8:g.46575595_46575596del	NCBI36
NG_008805.2:g.154682_154683del , LRG_778:g.154682_154683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2412_2413del	ENSP00000453958.2:p.Cys805Ter
ENST00000674301.2:c.2412_2413del	ENSP00000501333.2:p.Cys805Ter
ENST00000684448.1:n.1086_1087del
ENST00000316623.10:c.2412_2413del MANE Select	ENSP00000325527.5:p.Cys805Ter
ENST00000316623.9:c.2412_2413del	ENSP00000325527.5:p.Cys805Ter
ENST00000537463.6:c.637-21457_637-21456del	ENSP00000440294.2:n.637-21457_637-21456del
NM_000138.4:c.2412_2413del , LRG_778t1:c.2412_2413del	NP_000129.3:p.Cys805Ter
NM_000138.5:c.2412_2413del MANE Select	NP_000129.3:p.Cys805Ter