Canonical Allele Identifier: CA2628347745
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48446593-CATAAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446597_48446601del , CM000677.2:g.48446597_48446601del GRCh38
NC_000015.9:g.48738794_48738798del , CM000677.1:g.48738794_48738798del GRCh37
NC_000015.8:g.46526086_46526090del NCBI36
NG_008805.2:g.204191_204195del , LRG_778:g.204191_204195del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5788+108_5788+112del ENSP00000453958.2:n.5788+108_5788+112del
ENST00000674301.2:c.5788+108_5788+112del ENSP00000501333.2:n.5788+108_5788+112del
ENST00000684448.1:n.4462+108_4462+112del
ENST00000316623.10:c.5788+108_5788+112del MANE Select ENSP00000325527.5:n.5788+108_5788+112del
ENST00000674301.1:c.787+108_787+112del ENSP00000501333.1:n.787+108_787+112del
ENST00000316623.9:c.5788+108_5788+112del ENSP00000325527.5:n.5788+108_5788+112del
ENST00000537463.6:c.*1551+108_*1551+112del ENSP00000440294.2:n.*1551+108_*1551+112de...
ENST00000559133.5:c.1095+108_1095+112del
NM_000138.4:c.5788+108_5788+112del , LRG_778t1:c.5788+108_5788+112del NP_000129.3:n.5788+108_5788+112del
NM_000138.5:c.5788+108_5788+112del MANE Select NP_000129.3:n.5788+108_5788+112del
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