Canonical Allele Identifier: CA16619959
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423604
ClinVar RCV Id: RCV000480941
dbSNP Id: rs1064796522
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487317_48487325delinsAACGCGGAC , CM000677.2:g.48487317_48487325delinsAACGCGGAC GRCh38
NC_000015.9:g.48779514_48779522delinsAACGCGGAC , CM000677.1:g.48779514_48779522delinsAACGCGGAC GRCh37
NC_000015.8:g.46566806_46566814delinsAACGCGGAC NCBI36
NG_008805.2:g.163464_163472delinsGTCCGCGTT , LRG_778:g.163464_163472delinsGTCCGCGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3450_3458delinsGTCCGCGTT ENSP00000453958.2:p.Ile1150_Cys1153delins...
ENST00000674301.2:c.3450_3458delinsGTCCGCGTT ENSP00000501333.2:p.Ile1150_Cys1153delins...
ENST00000684448.1:n.2124_2132delinsGTCCGCGTT
ENST00000316623.10:c.3450_3458delinsGTCCGCGTT MANE Select ENSP00000325527.5:p.Ile1150_Cys1153delins...
ENST00000316623.9:c.3450_3458delinsGTCCGCGTT ENSP00000325527.5:p.Ile1150_Cys1153delins...
ENST00000537463.6:c.637-12675_637-12667delinsGTCCGCGTT ENSP00000440294.2:n.637-12675_637-12667de...
NM_000138.4:c.3450_3458delinsGTCCGCGTT , LRG_778t1:c.3450_3458delinsGTCCGCGTT NP_000129.3:p.Ile1150_Cys1153delinsMetSer...
NM_000138.5:c.3450_3458delinsGTCCGCGTT MANE Select NP_000129.3:p.Ile1150_Cys1153delinsMetSer...
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