Canonical Allele Identifier: CA969550438
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043144954
gnomAD v3: 15-48445154-A-AC
gnomAD v4: 15-48445154-A-AC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445154_48445155insC , CM000677.2:g.48445154_48445155insC GRCh38
NC_000015.9:g.48737351_48737352insC , CM000677.1:g.48737351_48737352insC GRCh37
NC_000015.8:g.46524643_46524644insC NCBI36
NG_008805.2:g.205634_205635insG , LRG_778:g.205634_205635insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+221_5917+222insG ENSP00000453958.2:n.5917+221_5917+222insG
ENST00000674301.2:c.5917+221_5917+222insG ENSP00000501333.2:n.5917+221_5917+222insG
ENST00000684448.1:n.4591+221_4591+222insG
ENST00000316623.10:c.5917+221_5917+222insG MANE Select ENSP00000325527.5:n.5917+221_5917+222insG
ENST00000674301.1:c.916+221_916+222insG ENSP00000501333.1:n.916+221_916+222insG
ENST00000316623.9:c.5917+221_5917+222insG ENSP00000325527.5:n.5917+221_5917+222insG
ENST00000537463.6:c.*1680+221_*1680+222insG ENSP00000440294.2:n.*1680+221_*1680+222insG
ENST00000559133.5:c.1224+221_1224+222insG
ENST00000560820.1:n.37+221_37+222insG
NM_000138.4:c.5917+221_5917+222insG , LRG_778t1:c.5917+221_5917+222insG NP_000129.3:n.5917+221_5917+222insG
NM_000138.5:c.5917+221_5917+222insG MANE Select NP_000129.3:n.5917+221_5917+222insG
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