Canonical Allele Identifier: CA713403380
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1384262586
MyVariant Identifiers: chr15:g.48737319_48737322del (hg19) chr15:g.48445122_48445125del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445123_48445126del , CM000677.2:g.48445123_48445126del GRCh38
NC_000015.9:g.48737320_48737323del , CM000677.1:g.48737320_48737323del GRCh37
NC_000015.8:g.46524612_46524615del NCBI36
NG_008805.2:g.205664_205667del , LRG_778:g.205664_205667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+251_5917+254del ENSP00000453958.2:n.5917+251_5917+254del
ENST00000674301.2:c.5917+251_5917+254del ENSP00000501333.2:n.5917+251_5917+254del
ENST00000684448.1:n.4591+251_4591+254del
ENST00000316623.10:c.5917+251_5917+254del MANE Select ENSP00000325527.5:n.5917+251_5917+254del
ENST00000674301.1:c.916+251_916+254del ENSP00000501333.1:n.916+251_916+254del
ENST00000316623.9:c.5917+251_5917+254del ENSP00000325527.5:n.5917+251_5917+254del
ENST00000537463.6:c.*1680+251_*1680+254del ENSP00000440294.2:n.*1680+251_*1680+254del
ENST00000559133.5:c.1224+251_1224+254del
ENST00000560820.1:n.37+251_37+254del
NM_000138.4:c.5917+251_5917+254del , LRG_778t1:c.5917+251_5917+254del NP_000129.3:n.5917+251_5917+254del
NM_000138.5:c.5917+251_5917+254del MANE Select NP_000129.3:n.5917+251_5917+254del
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