Canonical Allele Identifier: CA713403627
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1415244012
MyVariant Identifiers: chr15:g.48737392_48737393insACAC (hg19) chr15:g.48445195_48445196insACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445198_48445199insCACA , CM000677.2:g.48445198_48445199insCACA GRCh38
NC_000015.9:g.48737395_48737396insCACA , CM000677.1:g.48737395_48737396insCACA GRCh37
NC_000015.8:g.46524687_46524688insCACA NCBI36
NG_008805.2:g.205593_205594insGTGT , LRG_778:g.205593_205594insGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+180_5917+181insGTGT ENSP00000453958.2:n.5917+180_5917+181insGTGT
ENST00000674301.2:c.5917+180_5917+181insGTGT ENSP00000501333.2:n.5917+180_5917+181insGTGT
ENST00000684448.1:n.4591+180_4591+181insGTGT
ENST00000316623.10:c.5917+180_5917+181insGTGT MANE Select ENSP00000325527.5:n.5917+180_5917+181insGTGT
ENST00000674301.1:c.916+180_916+181insGTGT ENSP00000501333.1:n.916+180_916+181insGTGT
ENST00000316623.9:c.5917+180_5917+181insGTGT ENSP00000325527.5:n.5917+180_5917+181insGTGT
ENST00000537463.6:c.*1680+180_*1680+181insGTGT ENSP00000440294.2:n.*1680+180_*1680+181insGTGT
ENST00000559133.5:c.1224+180_1224+181insGTGT
ENST00000560820.1:n.37+180_37+181insGTGT
NM_000138.4:c.5917+180_5917+181insGTGT , LRG_778t1:c.5917+180_5917+181insGTGT NP_000129.3:n.5917+180_5917+181insGTGT
NM_000138.5:c.5917+180_5917+181insGTGT MANE Select NP_000129.3:n.5917+180_5917+181insGTGT
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