Canonical Allele Identifier: CA269532392
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs931622804
gnomAD v2: 15-48737320-CATAT-C
gnomAD v3: 15-48445123-CATAT-C
gnomAD v4: 15-48445123-CATAT-C
MyVariant Identifiers: chr15:g.48737321_48737324del (hg19) chr15:g.48445124_48445127del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445133_48445136del , CM000677.2:g.48445133_48445136del GRCh38
NC_000015.9:g.48737330_48737333del , CM000677.1:g.48737330_48737333del GRCh37
NC_000015.8:g.46524622_46524625del NCBI36
NG_008805.2:g.205662_205665del , LRG_778:g.205662_205665del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+249_5917+252del ENSP00000453958.2:n.5917+249_5917+252del
ENST00000674301.2:c.5917+249_5917+252del ENSP00000501333.2:n.5917+249_5917+252del
ENST00000684448.1:n.4591+249_4591+252del
ENST00000316623.10:c.5917+249_5917+252del MANE Select ENSP00000325527.5:n.5917+249_5917+252del
ENST00000674301.1:c.916+249_916+252del ENSP00000501333.1:n.916+249_916+252del
ENST00000316623.9:c.5917+249_5917+252del ENSP00000325527.5:n.5917+249_5917+252del
ENST00000537463.6:c.*1680+249_*1680+252del ENSP00000440294.2:n.*1680+249_*1680+252del
ENST00000559133.5:c.1224+249_1224+252del
ENST00000560820.1:n.37+249_37+252del
NM_000138.4:c.5917+249_5917+252del , LRG_778t1:c.5917+249_5917+252del NP_000129.3:n.5917+249_5917+252del
NM_000138.5:c.5917+249_5917+252del MANE Select NP_000129.3:n.5917+249_5917+252del
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