Canonical Allele Identifier: CA012763

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200150
• ClinVar RCV Id: RCV000181653 ; RCV000659513 ; RCV001206850 ; RCV002415771
• dbSNP Id: rs794728298
• MyVariant Identifiers: chr15:g.48796034_48796039del (hg19) ; chr15:g.48503837_48503842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503838_48503843del , CM000677.2:g.48503838_48503843del	GRCh38
NC_000015.9:g.48796035_48796040del , CM000677.1:g.48796035_48796040del	GRCh37
NC_000015.8:g.46583327_46583332del	NCBI36
NG_008805.2:g.146947_146952del , LRG_778:g.146947_146952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2058_2063del	ENSP00000453958.2:p.Ser687_Thr688del
ENST00000674301.2:c.2058_2063del	ENSP00000501333.2:p.Ser687_Thr688del
ENST00000684448.1:n.732_737del
ENST00000316623.10:c.2058_2063del MANE Select	ENSP00000325527.5:p.Ser687_Thr688del
ENST00000316623.9:c.2058_2063del	ENSP00000325527.5:p.Ser687_Thr688del
ENST00000537463.6:c.637-29192_637-29187del	ENSP00000440294.2:n.637-29192_637-29187del
NM_000138.4:c.2058_2063del , LRG_778t1:c.2058_2063del	NP_000129.3:p.Ser687_Thr688del
NM_000138.5:c.2058_2063del MANE Select	NP_000129.3:p.Ser687_Thr688del