Canonical Allele Identifier: CA658656493
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457187
ClinVar RCV Id: RCV000526518
dbSNP Id: rs1555398753
MyVariant Identifiers: chr15:g.48781876_48782069del (hg19) chr15:g.48489679_48489872del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489679_48489872del , CM000677.2:g.48489679_48489872del GRCh38
NC_000015.9:g.48781876_48782069del , CM000677.1:g.48781876_48782069del GRCh37
NC_000015.8:g.46569168_46569361del NCBI36
NG_008805.2:g.160917_161110del , LRG_778:g.160917_161110del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3061_3082+172del
ENST00000674301.2:c.3061_3082+172del
ENST00000684448.1:n.1735_1756+172del
ENST00000316623.10:c.3061_3082+172del
ENST00000316623.9:c.3061_3082+172del
ENST00000537463.6:c.637-15222_637-15029del ENSP00000440294.2:n.637-15222_637-15029de...
NM_000138.4:c.3061_3082+172del , LRG_778t1:c.3061_3082+172del
NM_000138.5:c.3061_3082+172del
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