Canonical Allele Identifier: CA713403516
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1491550725
gnomAD v3: 15-48445158-A-ACACATATATATATG
gnomAD v4: 15-48445158-A-ACACATATATATATG
MyVariant Identifiers: chr15:g.48737355_48737356insCACATATATATATG (hg19) chr15:g.48445158_48445159insCACATATATATATG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445158_48445159insCACATATATATATG , CM000677.2:g.48445158_48445159insCACATATATATATG GRCh38
NC_000015.9:g.48737355_48737356insCACATATATATATG , CM000677.1:g.48737355_48737356insCACATATATATATG GRCh37
NC_000015.8:g.46524647_46524648insCACATATATATATG NCBI36
NG_008805.2:g.205630_205631insCATATATATATGTG , LRG_778:g.205630_205631insCATATATATATGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+217_5917+218insCATATATATATGTG ENSP00000453958.2:n.5917+217_5917+218insCATATATATATGTG
ENST00000674301.2:c.5917+217_5917+218insCATATATATATGTG ENSP00000501333.2:n.5917+217_5917+218insCATATATATATGTG
ENST00000684448.1:n.4591+217_4591+218insCATATATATATGTG
ENST00000316623.10:c.5917+217_5917+218insCATATATATATGTG MANE Select ENSP00000325527.5:n.5917+217_5917+218insCATATATATATGTG
ENST00000674301.1:c.916+217_916+218insCATATATATATGTG ENSP00000501333.1:n.916+217_916+218insCATATATATATGTG
ENST00000316623.9:c.5917+217_5917+218insCATATATATATGTG ENSP00000325527.5:n.5917+217_5917+218insCATATATATATGTG
ENST00000537463.6:c.*1680+217_*1680+218insCATATATATATGTG ENSP00000440294.2:n.*1680+217_*1680+218insCATATATATATGTG
ENST00000559133.5:c.1224+217_1224+218insCATATATATATGTG
ENST00000560820.1:n.37+217_37+218insCATATATATATGTG
NM_000138.4:c.5917+217_5917+218insCATATATATATGTG , LRG_778t1:c.5917+217_5917+218insCATATATATATGTG NP_000129.3:n.5917+217_5917+218insCATATATATATGTG
NM_000138.5:c.5917+217_5917+218insCATATATATATGTG MANE Select NP_000129.3:n.5917+217_5917+218insCATATATATATGTG
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