Canonical Allele Identifier: CA2592719891
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v3: 15-48445187-TATATATATAC-T
gnomAD v4: 15-48445187-TATATATATAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445197_48445206del , CM000677.2:g.48445197_48445206del GRCh38
NC_000015.9:g.48737394_48737403del , CM000677.1:g.48737394_48737403del GRCh37
NC_000015.8:g.46524686_46524695del NCBI36
NG_008805.2:g.205592_205601del , LRG_778:g.205592_205601del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+179_5917+188del ENSP00000453958.2:n.5917+179_5917+188del
ENST00000674301.2:c.5917+179_5917+188del ENSP00000501333.2:n.5917+179_5917+188del
ENST00000684448.1:n.4591+179_4591+188del
ENST00000316623.10:c.5917+179_5917+188del MANE Select ENSP00000325527.5:n.5917+179_5917+188del
ENST00000674301.1:c.916+179_916+188del ENSP00000501333.1:n.916+179_916+188del
ENST00000316623.9:c.5917+179_5917+188del ENSP00000325527.5:n.5917+179_5917+188del
ENST00000537463.6:c.*1680+179_*1680+188del ENSP00000440294.2:n.*1680+179_*1680+188del
ENST00000559133.5:c.1224+179_1224+188del
ENST00000560820.1:n.37+179_37+188del
NM_000138.4:c.5917+179_5917+188del , LRG_778t1:c.5917+179_5917+188del NP_000129.3:n.5917+179_5917+188del
NM_000138.5:c.5917+179_5917+188del MANE Select NP_000129.3:n.5917+179_5917+188del
Search 100 bp 5'
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