Canonical Allele Identifier: CA617832316
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1190244413
gnomAD v2: 15-48700841-T-TA
gnomAD v3: 15-48408644-T-TA
gnomAD v4: 15-48408644-T-TA
MyVariant Identifiers: chr15:g.48700841_48700842insA (hg19) chr15:g.48408644_48408645insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408647dup , CM000677.2:g.48408647dup GRCh38
NC_000015.9:g.48700844dup , CM000677.1:g.48700844dup GRCh37
NC_000015.8:g.46488136dup NCBI36
NG_008805.2:g.242144dup , LRG_778:g.242144dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.5142dup
ENST00000682767.1:n.4258dup
ENST00000316623.10:c.*2345dup MANE Select ENSP00000325527.5:n.*2345dup
ENST00000316623.9:c.*2345dup ENSP00000325527.5:n.*2345dup
NM_000138.4:c.*2345dup , LRG_778t1:c.*2345dup NP_000129.3:n.*2345dup
NM_000138.5:c.*2345dup MANE Select NP_000129.3:n.*2345dup
Search 100 bp 5'
Search 100 bp 3'