Canonical Allele Identifier: CA013108
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42308
ClinVar RCV Id: RCV000035142
dbSNP Id: rs397515772
MyVariant Identifiers: chr15:g.48905204_48905205insA (hg19) chr15:g.48613007_48613008insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48613008dup , CM000677.2:g.48613008dup GRCh38
NC_000015.9:g.48905205dup , CM000677.1:g.48905205dup GRCh37
NC_000015.8:g.46692497dup NCBI36
NG_008805.2:g.37781dup , LRG_778:g.37781dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.247+2dup ENSP00000453958.2:n.247+2dup
ENST00000674301.2:c.247+2dup ENSP00000501333.2:n.247+2dup
ENST00000316623.10:c.247+2dup MANE Select ENSP00000325527.5:n.247+2dup
ENST00000316623.9:c.247+2dup ENSP00000325527.5:n.247+2dup
ENST00000537463.6:c.247+2dup ENSP00000440294.2:n.247+2dup
NM_000138.4:c.247+2dup , LRG_778t1:c.247+2dup NP_000129.3:n.247+2dup
NM_000138.5:c.247+2dup MANE Select NP_000129.3:n.247+2dup
Search 100 bp 5'
Search 100 bp 3'