Canonical Allele Identifier: CA012511
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36040
ClinVar RCV Id: RCV000029700
dbSNP Id: rs193922184
gnomAD v2: 15-48802186-CT-C
gnomAD v3: 15-48509989-CT-C
gnomAD v4: 15-48509989-CT-C
MyVariant Identifiers: chr15:g.48802187del (hg19) chr15:g.48509990del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48509990del , CM000677.2:g.48509990del GRCh38
NC_000015.9:g.48802187del , CM000677.1:g.48802187del GRCh37
NC_000015.8:g.46589479del NCBI36
NG_008805.2:g.140799del , LRG_778:g.140799del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1714+54del ENSP00000453958.2:n.1714+54del
ENST00000674301.2:c.1714+54del ENSP00000501333.2:n.1714+54del
ENST00000684448.1:n.388+54del
ENST00000316623.10:c.1714+54del MANE Select ENSP00000325527.5:n.1714+54del
ENST00000316623.9:c.1714+54del ENSP00000325527.5:n.1714+54del
ENST00000537463.6:c.636+27721del ENSP00000440294.2:n.636+27721del
NM_000138.4:c.1714+54del , LRG_778t1:c.1714+54del NP_000129.3:n.1714+54del
NM_000138.5:c.1714+54del MANE Select NP_000129.3:n.1714+54del
Search 100 bp 5'
Search 100 bp 3'