Canonical Allele Identifier: CA16619964
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419285
ClinVar RCV Id: RCV000485476
dbSNP Id: rs1064793770
MyVariant Identifiers: chr15:g.48782210_48782228del (hg19) chr15:g.48490013_48490031del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490014_48490032del , CM000677.2:g.48490014_48490032del GRCh38
NC_000015.9:g.48782211_48782229del , CM000677.1:g.48782211_48782229del GRCh37
NC_000015.8:g.46569503_46569521del NCBI36
NG_008805.2:g.160758_160776del , LRG_778:g.160758_160776del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2902_2920del ENSP00000453958.2:p.Thr968AlafsTer25
ENST00000674301.2:c.2902_2920del ENSP00000501333.2:p.Thr968AlafsTer25
ENST00000684448.1:n.1576_1594del
ENST00000316623.10:c.2902_2920del MANE Select ENSP00000325527.5:p.Thr968AlafsTer25
ENST00000316623.9:c.2902_2920del ENSP00000325527.5:p.Thr968AlafsTer25
ENST00000537463.6:c.637-15381_637-15363del ENSP00000440294.2:n.637-15381_637-15363de...
NM_000138.4:c.2902_2920del , LRG_778t1:c.2902_2920del NP_000129.3:p.Thr968AlafsTer25
NM_000138.5:c.2902_2920del MANE Select NP_000129.3:p.Thr968AlafsTer25
Search 100 bp 5'
Search 100 bp 3'