Canonical Allele Identifier: CA713393884

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1968760
• ClinVar RCV Id: RCV002712035
• dbSNP Id: rs1324741719
• MyVariant Identifiers: chr15:g.48737558del (hg19) ; chr15:g.48445361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445362del , CM000677.2:g.48445362del	GRCh38
NC_000015.9:g.48737559del , CM000677.1:g.48737559del	GRCh37
NC_000015.8:g.46524851del	NCBI36
NG_008805.2:g.205428del , LRG_778:g.205428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+15del	ENSP00000453958.2:n.5917+15del
ENST00000674301.2:c.5917+15del	ENSP00000501333.2:n.5917+15del
ENST00000684448.1:n.4591+15del
ENST00000316623.10:c.5917+15del MANE Select	ENSP00000325527.5:n.5917+15del
ENST00000674301.1:c.916+15del	ENSP00000501333.1:n.916+15del
ENST00000316623.9:c.5917+15del	ENSP00000325527.5:n.5917+15del
ENST00000537463.6:c.*1680+15del	ENSP00000440294.2:n.*1680+15del
ENST00000559133.5:c.1224+15del
ENST00000560820.1:n.37+15del
NM_000138.4:c.5917+15del , LRG_778t1:c.5917+15del	NP_000129.3:n.5917+15del
NM_000138.5:c.5917+15del MANE Select	NP_000129.3:n.5917+15del