Canonical Allele Identifier: CA015577
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 178599
ClinVar RCV Id: RCV000155352 RCV000181406 RCV000267078 RCV000284902 RCV000325512 RCV000273026 RCV000365244 RCV000377023 RCV002056080 RCV001719972
dbSNP Id: rs3833018
ExAC: 15:48755450 T / TA
gnomAD v2: 15-48755450-T-TA
gnomAD v3: 15-48463253-T-TA
gnomAD v4: 15-48463253-T-TA
MyVariant Identifiers: chr15:g.48755451dupA (hg19) chr15:g.48755452_48755453insA (hg19) chr15:g.48755451_48755452insA (hg19) chr15:g.48755450_48755451insA (hg19) chr15:g.48463254dupA (hg38) chr15:g.48463253_48463254insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463261dup , CM000677.2:g.48463261dup GRCh38
NC_000015.9:g.48755458dup , CM000677.1:g.48755458dup GRCh37
NC_000015.8:g.46542750dup NCBI36
NG_008805.2:g.187535dup , LRG_778:g.187535dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5066-14dup ENSP00000453958.2:n.5066-14dup
ENST00000674301.2:c.5066-14dup ENSP00000501333.2:n.5066-14dup
ENST00000684448.1:n.3740-14dup
ENST00000316623.10:c.5066-14dup MANE Select ENSP00000325527.5:n.5066-14dup
ENST00000674301.1:c.65-14dup ENSP00000501333.1:n.65-14dup
ENST00000316623.9:c.5066-14dup ENSP00000325527.5:n.5066-14dup
ENST00000537463.6:c.*829-14dup ENSP00000440294.2:n.*829-14dup
ENST00000559133.5:c.373-14dup
NM_000138.4:c.5066-14dup , LRG_778t1:c.5066-14dup NP_000129.3:n.5066-14dup
NM_000138.5:c.5066-14dup MANE Select NP_000129.3:n.5066-14dup
Search 100 bp 5'
Search 100 bp 3'