Canonical Allele Identifier: CA16619974
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419210
ClinVar RCV Id: RCV000487212
dbSNP Id: rs1064793723
MyVariant Identifiers: chr15:g.48807681_48807691del (hg19) chr15:g.48515484_48515494del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48515485_48515495del , CM000677.2:g.48515485_48515495del GRCh38
NC_000015.9:g.48807682_48807692del , CM000677.1:g.48807682_48807692del GRCh37
NC_000015.8:g.46594974_46594984del NCBI36
NG_008805.2:g.135295_135305del , LRG_778:g.135295_135305del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1361_1371del ENSP00000453958.2:p.Gln454LeufsTer18
ENST00000674301.2:c.1361_1371del ENSP00000501333.2:p.Gln454LeufsTer18
ENST00000684448.1:n.35_45del
ENST00000316623.10:c.1361_1371del MANE Select ENSP00000325527.5:p.Gln454LeufsTer18
ENST00000316623.9:c.1361_1371del ENSP00000325527.5:p.Gln454LeufsTer18
ENST00000537463.6:c.636+22217_636+22227del ENSP00000440294.2:n.636+22217_636+22227de...
NM_000138.4:c.1361_1371del , LRG_778t1:c.1361_1371del NP_000129.3:p.Gln454LeufsTer18
NM_000138.5:c.1361_1371del MANE Select NP_000129.3:p.Gln454LeufsTer18
Search 100 bp 5'
Search 100 bp 3'