Canonical Allele Identifier: CA10587826
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263907
ClinVar RCV Id: RCV002310898
dbSNP Id: rs886038970
MyVariant Identifiers: chr15:g.48766521_48766527del (hg19) chr15:g.48474324_48474330del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474328_48474334del , CM000677.2:g.48474328_48474334del GRCh38
NC_000015.9:g.48766525_48766531del , CM000677.1:g.48766525_48766531del GRCh37
NC_000015.8:g.46553817_46553823del NCBI36
NG_008805.2:g.176459_176465del , LRG_778:g.176459_176465del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4135_4141del ENSP00000453958.2:p.Asp1379ArgfsTer?
ENST00000674301.2:c.4135_4141del ENSP00000501333.2:p.Asp1379ArgfsTer?
ENST00000684448.1:n.2809_2815del
ENST00000316623.10:c.4135_4141del MANE Select ENSP00000325527.5:p.Asp1379ArgfsTer?
ENST00000316623.9:c.4135_4141del ENSP00000325527.5:p.Asp1379ArgfsTer?
ENST00000537463.6:c.807_813del ENSP00000440294.2:p.Thr270GlufsTer17
NM_000138.4:c.4135_4141del , LRG_778t1:c.4135_4141del NP_000129.3:p.Asp1379ArgfsTer?
NM_000138.5:c.4135_4141del MANE Select NP_000129.3:p.Asp1379ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'