Canonical Allele Identifier: CA490017791
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs72132658
gnomAD v2: 15-48779200-A-AATAAC
gnomAD v3: 15-48487003-A-AATAAC
gnomAD v4: 15-48487003-A-AATAAC
MyVariant Identifiers: chr15:g.48779210_48779211insATAAC (hg19) chr15:g.48779205_48779206insATAAC (hg19) chr15:g.48779200_48779201insATAAC (hg19) chr15:g.48487013_48487014insATAAC (hg38) chr15:g.48487003_48487004insATAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487023_48487027dup , CM000677.2:g.48487023_48487027dup GRCh38
NC_000015.9:g.48779220_48779224dup , CM000677.1:g.48779220_48779224dup GRCh37
NC_000015.8:g.46566512_46566516dup NCBI36
NG_008805.2:g.163781_163785dup , LRG_778:g.163781_163785dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3589+67_3589+71dup ENSP00000453958.2:n.3589+67_3589+71dup
ENST00000674301.2:c.3589+67_3589+71dup ENSP00000501333.2:n.3589+67_3589+71dup
ENST00000684448.1:n.2263+67_2263+71dup
ENST00000316623.10:c.3589+67_3589+71dup MANE Select ENSP00000325527.5:n.3589+67_3589+71dup
ENST00000316623.9:c.3589+67_3589+71dup ENSP00000325527.5:n.3589+67_3589+71dup
ENST00000537463.6:c.637-12358_637-12354dup ENSP00000440294.2:n.637-12358_637-12354dup
NM_000138.4:c.3589+67_3589+71dup , LRG_778t1:c.3589+67_3589+71dup NP_000129.3:n.3589+67_3589+71dup
NM_000138.5:c.3589+67_3589+71dup MANE Select NP_000129.3:n.3589+67_3589+71dup
Search 100 bp 5'
Search 100 bp 3'