Canonical Allele Identifier: CA2628347578
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48445231-CAAGCCTTTATA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445232_48445242del , CM000677.2:g.48445232_48445242del GRCh38
NC_000015.9:g.48737429_48737439del , CM000677.1:g.48737429_48737439del GRCh37
NC_000015.8:g.46524721_46524731del NCBI36
NG_008805.2:g.205547_205557del , LRG_778:g.205547_205557del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+134_5917+144del ENSP00000453958.2:n.5917+134_5917+144del
ENST00000674301.2:c.5917+134_5917+144del ENSP00000501333.2:n.5917+134_5917+144del
ENST00000684448.1:n.4591+134_4591+144del
ENST00000316623.10:c.5917+134_5917+144del MANE Select ENSP00000325527.5:n.5917+134_5917+144del
ENST00000674301.1:c.916+134_916+144del ENSP00000501333.1:n.916+134_916+144del
ENST00000316623.9:c.5917+134_5917+144del ENSP00000325527.5:n.5917+134_5917+144del
ENST00000537463.6:c.*1680+134_*1680+144del ENSP00000440294.2:n.*1680+134_*1680+144del
ENST00000559133.5:c.1224+134_1224+144del
ENST00000560820.1:n.37+134_37+144del
NM_000138.4:c.5917+134_5917+144del , LRG_778t1:c.5917+134_5917+144del NP_000129.3:n.5917+134_5917+144del
NM_000138.5:c.5917+134_5917+144del MANE Select NP_000129.3:n.5917+134_5917+144del
Search 100 bp 5'
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