Canonical Allele Identifier: CA969550401
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043144514
gnomAD v3: 15-48445143-C-CATATATAT
gnomAD v4: 15-48445143-C-CATATATAT
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445144_48445145insTATATATA , CM000677.2:g.48445144_48445145insTATATATA GRCh38
NC_000015.9:g.48737341_48737342insTATATATA , CM000677.1:g.48737341_48737342insTATATATA GRCh37
NC_000015.8:g.46524633_46524634insTATATATA NCBI36
NG_008805.2:g.205645_205646insATATATAT , LRG_778:g.205645_205646insATATATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+232_5917+233insATATATAT ENSP00000453958.2:n.5917+232_5917+233insATATATAT
ENST00000674301.2:c.5917+232_5917+233insATATATAT ENSP00000501333.2:n.5917+232_5917+233insATATATAT
ENST00000684448.1:n.4591+232_4591+233insATATATAT
ENST00000316623.10:c.5917+232_5917+233insATATATAT MANE Select ENSP00000325527.5:n.5917+232_5917+233insATATATAT
ENST00000674301.1:c.916+232_916+233insATATATAT ENSP00000501333.1:n.916+232_916+233insATATATAT
ENST00000316623.9:c.5917+232_5917+233insATATATAT ENSP00000325527.5:n.5917+232_5917+233insATATATAT
ENST00000537463.6:c.*1680+232_*1680+233insATATATAT ENSP00000440294.2:n.*1680+232_*1680+233insATATATAT
ENST00000559133.5:c.1224+232_1224+233insATATATAT
ENST00000560820.1:n.37+232_37+233insATATATAT
NM_000138.4:c.5917+232_5917+233insATATATAT , LRG_778t1:c.5917+232_5917+233insATATATAT NP_000129.3:n.5917+232_5917+233insATATATAT
NM_000138.5:c.5917+232_5917+233insATATATAT MANE Select NP_000129.3:n.5917+232_5917+233insATATATAT
Search 100 bp 5'
Search 100 bp 3'