Canonical Allele Identifier: CA16042960
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1057517851
MyVariant Identifiers: chr15:g.48733961_48733962del (hg19) chr15:g.48441764_48441765del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441767_48441768del , CM000677.2:g.48441767_48441768del GRCh38
NC_000015.9:g.48733964_48733965del , CM000677.1:g.48733964_48733965del GRCh37
NC_000015.8:g.46521256_46521257del NCBI36
NG_008805.2:g.209024_209025del , LRG_778:g.209024_209025del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6119_6120del ENSP00000453958.2:p.Cys2040SerfsTer26
ENST00000674301.2:c.6119_6120del ENSP00000501333.2:p.Cys2040SerfsTer26
ENST00000316623.10:c.6119_6120del MANE Select ENSP00000325527.5:p.Cys2040SerfsTer26
ENST00000674301.1:c.1118_1119del ENSP00000501333.1:p.Cys373SerfsTer26
ENST00000316623.9:c.6119_6120del ENSP00000325527.5:p.Cys2040SerfsTer26
ENST00000537463.6:c.*1882_*1883del ENSP00000440294.2:n.*1882_*1883del
ENST00000559133.5:c.1426_1427del
ENST00000560820.1:n.239_240del
NM_000138.4:c.6119_6120del , LRG_778t1:c.6119_6120del NP_000129.3:p.Cys2040SerfsTer26
NM_000138.5:c.6119_6120del MANE Select NP_000129.3:p.Cys2040SerfsTer26
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