Canonical Allele Identifier: CA269532372
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs563349383
gnomAD v2: 15-48737316-T-TAC
gnomAD v3: 15-48445119-T-TAC
gnomAD v4: 15-48445119-T-TAC
MyVariant Identifiers: chr15:g.48737316_48737317insAC (hg19) chr15:g.48445119_48445120insAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445123_48445124dup , CM000677.2:g.48445123_48445124dup GRCh38
NC_000015.9:g.48737320_48737321dup , CM000677.1:g.48737320_48737321dup GRCh37
NC_000015.8:g.46524612_46524613dup NCBI36
NG_008805.2:g.205668_205669dup , LRG_778:g.205668_205669dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+255_5917+256dup ENSP00000453958.2:n.5917+255_5917+256dup
ENST00000674301.2:c.5917+255_5917+256dup ENSP00000501333.2:n.5917+255_5917+256dup
ENST00000684448.1:n.4591+255_4591+256dup
ENST00000316623.10:c.5917+255_5917+256dup MANE Select ENSP00000325527.5:n.5917+255_5917+256dup
ENST00000674301.1:c.916+255_916+256dup ENSP00000501333.1:n.916+255_916+256dup
ENST00000316623.9:c.5917+255_5917+256dup ENSP00000325527.5:n.5917+255_5917+256dup
ENST00000537463.6:c.*1680+255_*1680+256dup ENSP00000440294.2:n.*1680+255_*1680+256dup
ENST00000559133.5:c.1224+255_1224+256dup
ENST00000560820.1:n.37+255_37+256dup
NM_000138.4:c.5917+255_5917+256dup , LRG_778t1:c.5917+255_5917+256dup NP_000129.3:n.5917+255_5917+256dup
NM_000138.5:c.5917+255_5917+256dup MANE Select NP_000129.3:n.5917+255_5917+256dup
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