Canonical Allele Identifier: CA713423503
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1445468072
gnomAD v3: 15-48520946-C-CG
gnomAD v4: 15-48520946-C-CG
MyVariant Identifiers: chr15:g.48813143_48813144insG (hg19) chr15:g.48520946_48520947insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520948dup , CM000677.2:g.48520948dup GRCh38
NC_000015.9:g.48813145dup , CM000677.1:g.48813145dup GRCh37
NC_000015.8:g.46600437dup NCBI36
NG_008805.2:g.129842dup , LRG_778:g.129842dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.989-130dup ENSP00000453958.2:n.989-130dup
ENST00000674301.2:c.989-130dup ENSP00000501333.2:n.989-130dup
ENST00000316623.10:c.989-130dup MANE Select ENSP00000325527.5:n.989-130dup
ENST00000316623.9:c.989-130dup ENSP00000325527.5:n.989-130dup
ENST00000537463.6:c.636+16764dup ENSP00000440294.2:n.636+16764dup
NM_000138.4:c.989-130dup , LRG_778t1:c.989-130dup NP_000129.3:n.989-130dup
NM_000138.5:c.989-130dup MANE Select NP_000129.3:n.989-130dup
Search 100 bp 5'
Search 100 bp 3'