Canonical Allele Identifier: CA617836985
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1566898258
gnomAD v2: 15-48737322-T-TATATATATATACACACACACATATATATATAC
gnomAD v3: 15-48445125-T-TATATATATATACACACACACATATATATATAC
gnomAD v4: 15-48445125-T-TATATATATATACACACACACATATATATATAC
MyVariant Identifiers: chr15:g.48737323_48737324insTATATATATACACACACACATATATATATACA (hg19) chr15:g.48445126_48445127insTATATATATACACACACACATATATATATACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445143_48445174dup , CM000677.2:g.48445143_48445174dup GRCh38
NC_000015.9:g.48737340_48737371dup , CM000677.1:g.48737340_48737371dup GRCh37
NC_000015.8:g.46524632_46524663dup NCBI36
NG_008805.2:g.205632_205663dup , LRG_778:g.205632_205663dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+219_5917+250dup ENSP00000453958.2:n.5917+219_5917+250dup
ENST00000674301.2:c.5917+219_5917+250dup ENSP00000501333.2:n.5917+219_5917+250dup
ENST00000684448.1:n.4591+219_4591+250dup
ENST00000316623.10:c.5917+219_5917+250dup MANE Select ENSP00000325527.5:n.5917+219_5917+250dup
ENST00000674301.1:c.916+219_916+250dup ENSP00000501333.1:n.916+219_916+250dup
ENST00000316623.9:c.5917+219_5917+250dup ENSP00000325527.5:n.5917+219_5917+250dup
ENST00000537463.6:c.*1680+219_*1680+250dup ENSP00000440294.2:n.*1680+219_*1680+250dup
ENST00000559133.5:c.1224+219_1224+250dup
ENST00000560820.1:n.37+219_37+250dup
NM_000138.4:c.5917+219_5917+250dup , LRG_778t1:c.5917+219_5917+250dup NP_000129.3:n.5917+219_5917+250dup
NM_000138.5:c.5917+219_5917+250dup MANE Select NP_000129.3:n.5917+219_5917+250dup
Search 100 bp 5'
Search 100 bp 3'