Canonical Allele Identifier: CA713403403
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1004604996
gnomAD v3: 15-48445135-T-TAC
gnomAD v4: 15-48445135-T-TAC
MyVariant Identifiers: chr15:g.48737332_48737333insAC (hg19) chr15:g.48445135_48445136insAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445145_48445146dup , CM000677.2:g.48445145_48445146dup GRCh38
NC_000015.9:g.48737342_48737343dup , CM000677.1:g.48737342_48737343dup GRCh37
NC_000015.8:g.46524634_46524635dup NCBI36
NG_008805.2:g.205652_205653dup , LRG_778:g.205652_205653dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+239_5917+240dup ENSP00000453958.2:n.5917+239_5917+240dup
ENST00000674301.2:c.5917+239_5917+240dup ENSP00000501333.2:n.5917+239_5917+240dup
ENST00000684448.1:n.4591+239_4591+240dup
ENST00000316623.10:c.5917+239_5917+240dup MANE Select ENSP00000325527.5:n.5917+239_5917+240dup
ENST00000674301.1:c.916+239_916+240dup ENSP00000501333.1:n.916+239_916+240dup
ENST00000316623.9:c.5917+239_5917+240dup ENSP00000325527.5:n.5917+239_5917+240dup
ENST00000537463.6:c.*1680+239_*1680+240dup ENSP00000440294.2:n.*1680+239_*1680+240dup
ENST00000559133.5:c.1224+239_1224+240dup
ENST00000560820.1:n.37+239_37+240dup
NM_000138.4:c.5917+239_5917+240dup , LRG_778t1:c.5917+239_5917+240dup NP_000129.3:n.5917+239_5917+240dup
NM_000138.5:c.5917+239_5917+240dup MANE Select NP_000129.3:n.5917+239_5917+240dup
Search 100 bp 5'
Search 100 bp 3'