Canonical Allele Identifier: CA658824436
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549185
ClinVar RCV Id: RCV000663664
dbSNP Id: rs1555398287
MyVariant Identifiers: chr15:g.48776094del (hg19) chr15:g.48483897del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483897del , CM000677.2:g.48483897del GRCh38
NC_000015.9:g.48776094del , CM000677.1:g.48776094del GRCh37
NC_000015.8:g.46563386del NCBI36
NG_008805.2:g.166892del , LRG_778:g.166892del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3759del ENSP00000453958.2:p.Gln1253HisfsTer23
ENST00000674301.2:c.3759del ENSP00000501333.2:p.Gln1253HisfsTer23
ENST00000684448.1:n.2433del
ENST00000316623.10:c.3759del MANE Select ENSP00000325527.5:p.Gln1253HisfsTer23
ENST00000316623.9:c.3759del ENSP00000325527.5:p.Gln1253HisfsTer23
ENST00000537463.6:c.637-9247del ENSP00000440294.2:n.637-9247del
NM_000138.4:c.3759del , LRG_778t1:c.3759del NP_000129.3:p.Gln1253HisfsTer23
NM_000138.5:c.3759del MANE Select NP_000129.3:p.Gln1253HisfsTer23
Search 100 bp 5'
Search 100 bp 3'